Publications by authors named "Christiane Al-Haddad"

38 Publications

A comparison of the workload between pediatric and adult ophthalmology encounters.

J AAPOS 2021 Jun 2. Epub 2021 Jun 2.

Ophthalmology Department, American University of Beirut, Beirut, Lebanon. Electronic address:

Purpose: To explore the differences in workload between pediatric and adult ophthalmology encounters in the private clinics of an academic medical center.

Methods: Complete encounters from four different subspecialties were analysed: pediatric ophthalmology, pediatric ophthalmology/neuroophthalmology, anterior segment, and retina. Five parameters were studied: time waiting for assistant, time with assistant, time waiting for physician, time with physician, and total visit time. Imaging or procedures performed during the clinic visit were recorded. A regression analysis by age was also performed.

Results: Of 8,545 clinic visits reviewed, 5,611 were complete and included. Pediatric patients spent more time than adults with assistants (10.6 ± 11.5 vs 7.3 ± 6.8 min; P < 0.001) and more time with physicians (25.9 ± 21.6 vs 17.0 ± 13.8 min; P < 0.001) but less time waiting for the physician. Total visit time and time waiting for an assistant did not differ significantly between groups. Adults who underwent a procedure or imaging during their visit had significantly longer times in most components of the encounter. Age was positively correlated with time waiting for physician, time with physician, and total visit time in the adults group. In the pediatric group, age was positively correlated with time with assistant and negatively correlated with time with physician.

Conclusions: Our study showed that pediatric patients waited a shorter duration for their physicians than adults; however, they required more time with both the physician and the assistant. Total visit time was similar between groups.
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http://dx.doi.org/10.1016/j.jaapos.2021.01.010DOI Listing
June 2021

Gene therapy in color vision deficiency: a review.

Int Ophthalmol 2021 May 2;41(5):1917-1927. Epub 2021 Feb 2.

Ophthalmology Department, American University of Beirut, Beirut, Lebanon.

Background: Color vision deficiencies are a group of vision disorders, characterized by abnormal color discrimination. They include red-green color blindness, yellow-blue color blindness and achromatopsia, among others. The deficiencies are caused by mutations in the genes coding for various components of retinal cones. Gene therapy is rising as a promising therapeutic modality. The purpose of this review article is to explore the available literature on gene therapy in the different forms of color vision deficiencies.

Methods: A thorough literature review was performed on PubMed using the keywords: color vision deficiencies, gene therapy, achromatopsia and the various genes responsible for this condition (OPN1LW, OPN1MW, ATF6, CNGA3, CNGB3, GNAT2, PDE6H, and PDE6C).

Results: Various adenovirus vectors have been deployed to test the efficacy of gene therapy for achromatopsia in animals and humans. Gene therapy trials in humans and animals targeting mutations in CNGA3 have been performed, demonstrating an improvement in electroretinogram (ERG)-investigated cone cell functionality. Similar outcomes have been reported for experimental studies on other genes (CNGB3, GNAT2, M- and L-opsin). It has also been reported that delivering the genes via intravitreal rather than subretinal injections could be safer. There are currently 3 ongoing human clinical trials for the treatment of achromatopsia due to mutations in CNGB3 and CNGA3.

Conclusion: Experimental studies and clinical trials generally showed improvement in ERG-investigated cone cell functionality and visually elicited behavior. Gene therapy is a promising novel therapeutic modality in color vision deficiencies.
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http://dx.doi.org/10.1007/s10792-021-01717-0DOI Listing
May 2021

KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3.

Ophthalmic Genet 2021 04 29;42(2):195-199. Epub 2020 Nov 29.

Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.

Congenital fibrosis of the extraocular muscles (CFEOM) is characterized by ptosis and non-progressive restrictive ophthalmoplegia. CFEOM1 is a stereotypical phenotype with isolated bilateral ptosis, bilateral ophthalmoplegia, absent upgaze, and globe infraduction. CFEOM3 is a more variable phenotype that can include unilateral disease, absent ptosis, residual upgaze, and/or orthotropia. Most cases of CFEOM1 result from recurrent heterozygous missense mutations and less commonly from recurrent heterozygous missense mutations. While most cases of CFEOM3 result from recurrent heterozygous missense mutations, several pedigrees harbored pathogenic variants in . Here, we asked if Lebanese pedigrees with CFEOM3 harbor pathogenic variants in or Families affected with congenital cranial dysinnervation disorders were prospectively recruited from the American University of Beirut pediatric ophthalmology clinic and included two probands with CFEOM. hotspot exons and coding sequence were sequenced. Available family members were sequenced for co-segregation analysis. Both families were found to have CFEOM3 and to harbor pathogenic variants in (OMIM 608283). A simplex proband with CFEOM3 from a consanguineous Iraqi family harbored a heterozygous c.2860 C > T variant (p.R954W); this variant accounts for the majority of reported mutations but is typically implicated in CFEOM1. A Lebanese father with CFEOM3 and his son with CFEOM1 segregated a heterozygous c.2830 G > C variant (p.E944Q), previously reported in an individual with CFEOM1. These results support prior reports of mutations as a rare cause of CFEOM3. These families are Middle Eastern or Chinese, supporting a genetic modifier in these populations.
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http://dx.doi.org/10.1080/13816810.2020.1852576DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7987873PMC
April 2021

Recurrence of Intermittent Exotropia after Bilateral Lateral Rectus Recession.

Middle East Afr J Ophthalmol 2020 Apr-Jun;27(2):123-127. Epub 2020 Jul 20.

Department of Ophthalmology, American University of Beirut, Beirut, Lebanon.

Purpose: The purpose of this study was to evaluate predictive factors for intermittent exotropia (XT) recurrence after bilateral lateral rectus (BLR) recession.

Methods: This is a retrospective chart review of patients with XT who underwent BLR recession surgery between January 2007 and March 2017 with at least one postsurgical follow-up. Forty-one medical records were reviewed. Information collected included age, gender, systemic diseases, history of prematurity, family history of eye diseases, visual acuity, refraction, ocular alignment and control, stereoacuity, slit-lamp examination, fundoscopy, and amount of BLR recession. Successful alignment was defined as ≤8 prism diopters of esotropia or exotropia postoperatively.

Results: The mean age of patients at the time of surgery and follow-up time was 9.2 ± 12.3 years (y) and 23.6 ± 36.5 months (m), respectively. The mean amount of BLR recession was 6.5 ± 1.0 mm. Recurrence rate was 43.9% on the last follow-up. Age at surgery and at the time of last follow-up were significantly higher in the recurring group ( = 0.04 and = 0.05, respectively). Postoperative angle of misalignment during the first 3 months was correlated with exotropia recurrence. No statistical significance was found among the remaining factors studied.

Conclusions: The recurrence rate of XT in our study was 43.9%; it was increased in patients operated at older age and amid those with significant exotropia detected in the early postoperative period (within 3 months of surgery).
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http://dx.doi.org/10.4103/meajo.MEAJO_188_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7442074PMC
September 2020

Reply to the letter to the editor: Multifocal electroretinography in amblyopia.

Graefes Arch Clin Exp Ophthalmol 2020 05 28;258(5):1139-1140. Epub 2020 Mar 28.

Ophthalmology Department, American University of Beirut Medical Center, PO Box 110236, Beirut, Lebanon.

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http://dx.doi.org/10.1007/s00417-020-04657-0DOI Listing
May 2020

Global Retinoblastoma Presentation and Analysis by National Income Level.

JAMA Oncol 2020 05;6(5):685-695

Imam Hussein Cancer Center, Karbala, Iraq.

Importance: Early diagnosis of retinoblastoma, the most common intraocular cancer, can save both a child's life and vision. However, anecdotal evidence suggests that many children across the world are diagnosed late. To our knowledge, the clinical presentation of retinoblastoma has never been assessed on a global scale.

Objectives: To report the retinoblastoma stage at diagnosis in patients across the world during a single year, to investigate associations between clinical variables and national income level, and to investigate risk factors for advanced disease at diagnosis.

Design, Setting, And Participants: A total of 278 retinoblastoma treatment centers were recruited from June 2017 through December 2018 to participate in a cross-sectional analysis of treatment-naive patients with retinoblastoma who were diagnosed in 2017.

Main Outcomes And Measures: Age at presentation, proportion of familial history of retinoblastoma, and tumor stage and metastasis.

Results: The cohort included 4351 new patients from 153 countries; the median age at diagnosis was 30.5 (interquartile range, 18.3-45.9) months, and 1976 patients (45.4%) were female. Most patients (n = 3685 [84.7%]) were from low- and middle-income countries (LMICs). Globally, the most common indication for referral was leukocoria (n = 2638 [62.8%]), followed by strabismus (n = 429 [10.2%]) and proptosis (n = 309 [7.4%]). Patients from high-income countries (HICs) were diagnosed at a median age of 14.1 months, with 656 of 666 (98.5%) patients having intraocular retinoblastoma and 2 (0.3%) having metastasis. Patients from low-income countries were diagnosed at a median age of 30.5 months, with 256 of 521 (49.1%) having extraocular retinoblastoma and 94 of 498 (18.9%) having metastasis. Lower national income level was associated with older presentation age, higher proportion of locally advanced disease and distant metastasis, and smaller proportion of familial history of retinoblastoma. Advanced disease at diagnosis was more common in LMICs even after adjusting for age (odds ratio for low-income countries vs upper-middle-income countries and HICs, 17.92 [95% CI, 12.94-24.80], and for lower-middle-income countries vs upper-middle-income countries and HICs, 5.74 [95% CI, 4.30-7.68]).

Conclusions And Relevance: This study is estimated to have included more than half of all new retinoblastoma cases worldwide in 2017. Children from LMICs, where the main global retinoblastoma burden lies, presented at an older age with more advanced disease and demonstrated a smaller proportion of familial history of retinoblastoma, likely because many do not reach a childbearing age. Given that retinoblastoma is curable, these data are concerning and mandate intervention at national and international levels. Further studies are needed to investigate factors, other than age at presentation, that may be associated with advanced disease in LMICs.
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http://dx.doi.org/10.1001/jamaoncol.2019.6716DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7047856PMC
May 2020

Multifocal electroretinography in amblyopia.

Graefes Arch Clin Exp Ophthalmol 2020 Mar 3;258(3):683-691. Epub 2020 Jan 3.

Ophthalmology Department, American University of Beirut Medical Center, PO Box 110236, Beirut, Lebanon.

Purpose: To identify whether there are functional abnormalities in the retina of amblyopic eyes using multifocal electroretinography (mfERG).

Methods: This is a prospective study of patients ≥ 7 years of age identified with unilateral amblyopia (strabismic or anisometropic). Multifocal ERG and flash ERG were performed to compare parameters between the amblyopic and non-amblyopic fellow eyes. A complete analysis of the five ring averages was done including the central ring.

Results: Thirty-eight patients were included: mean age was 14.3 ± 7.3 years; 18 patients were strabismic and 20 were anisometropic. Amblyopic eye responses across the rings in multifocal ERG were diminished compared with fellow non-amblyopic eyes with significant differences detected in the central rings (p = 0.001). On the other hand, flash ERG did not show any consistently significant differences. When divided by severity, amplitudes of central rings were significantly lower in severely amblyopic eyes compared with non-amblyopic eyes (p = 0.001), while in mild amblyopia, no significant differences were observed. No significant difference was observed between anisometropic and strabismic amblyopic eyes.

Conclusions: Using multifocal ERG, significantly decreased amplitudes were observed in amblyopic eyes compared with normal fellow eyes in the central ring. This correlated with the severity of amblyopia. No difference was observed when comparing the two groups of amblyopia (strabismic and anisometropic). Those findings may help clarify the pathophysiology of amblyopia better and open the door for new objective ways to monitor the response to amblyopia treatment but this needs to be further studied.
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http://dx.doi.org/10.1007/s00417-019-04558-xDOI Listing
March 2020

Eye Tracking Abnormalities in School-Aged Children With Strabismus and With and Without Amblyopia.

J Pediatr Ophthalmol Strabismus 2019 Sep;56(5):297-304

Purpose: To detect eye tracking abnormalities in children with strabismus in the absence or presence of amblyopia.

Methods: A total of 100 patients aged 7 to 17 years were enrolled prospectively for 2 years from the pediatric ophthalmology clinic of the American University of Beirut Medical Center: 50 children with strabismus (including 24 with amblyopia) and 50 age- and gender-matched controls. Eye tracking with different paradigms was performed.

Results: Mean age was 10.66 ± 2.90 years in the strabismus group and 10.02 ± 2.75 years in the control group. Demographic characteristics were similar with respect to vision, gender, and refraction. Four paradigms were tested using the eye tracker: (1) distance/near paradigm: patients with strabismus showed a lower fixation count and longer fixation at both distances and a tendency for decreased latency and percentage of fixation in distant elements; (2) reading paradigm: the strabismus group had a higher fixation count and duration, especially those without amblyopia; (3) location identification paradigm: strabismus group without amblyopia fixated less and with shorter duration on the most flagrant element; and (4) video paradigm: no differences in eye movements were noted.

Conclusions: Significant eye movement deficits were demonstrated in patients with strabismus compared to controls while reading text and identifying prominent elements in a crowded photograph. This was significant in the non-amblyopic subgroup. [J Pediatr Ophthalmol Strabismus. 2019;56(5):297-304.].
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http://dx.doi.org/10.3928/01913913-20190726-01DOI Listing
September 2019

Clinical Profile and Treatment Outcomes of Amblyopia Across Age Groups.

Middle East Afr J Ophthalmol 2019 Apr-Jun;26(2):71-76. Epub 2019 Aug 26.

Department of Ophthalmology, American University of Beirut Medical Center, Beirut, Lebanon.

Purpose: The purpose is to study the clinical profile of amblyopia by age at diagnosis.

Subjects And Methods: A retrospective chart review of 327 amblyopic patients over 7 years (September 2009-December 2016) was performed, divided by age at diagnosis into four groups: <3, 3-7, 8-15, and >15 years. Demographics, eye conditions and eye examination parameters including visual acuity (VA), refractive errors, and motility measurements were collected.

Results: Mean age at diagnosis and follow-up time was 6.2 ± 6.1 years standard deviation (SD) and 12.4 months ± 20.6 SD, respectively. The most common overall cause of amblyopia was strabismus (37%) followed by anisometropia (36%). The main causes by age at diagnosis were: strabismus at <3 years, anisometropia at 3-7 years, anisometropia at 8-15 years, and mixed at >15 years. Significant improvement in VA with treatment was noted with age between 3 and 15 years (3-7 years, = 0.001 and 8-15 years, = 0.03).

Conclusions: Strabismus was the main cause of amblyopia at <3 years of age; anisometropia was more prevalent in older children (3-15 years). The fact that more than a quarter of our amblyopic patients were detected late (after the age of 8 years) underscores the need for expanded vision screening measures in young children.
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http://dx.doi.org/10.4103/meajo.MEAJO_182_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6737791PMC
November 2019

Establishment of a formal program for retinoblastoma: Feasibility of clinical coordination across borders and impact on outcome.

Pediatr Blood Cancer 2019 11 18;66(11):e27959. Epub 2019 Aug 18.

Children's Cancer Institute, and Department of Pediatric and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

Retinoblastoma is an ocular tumor that occurs in young children, in either heritable or sporadic manner. The relative rarity of retinoblastoma, and the need for expensive equipment, anesthesia, and pediatric ophthalmologic expertise, are barriers for effective treatment in developing countries. Also, with an average age-adjusted incidence of two to five cases per million children, patient number limits development of local expertise in countries with small populations. Lebanon is a small country with a population of approximately 4.5 million. In 2012, a comprehensive retinoblastoma program was formalized at the Children's Cancer Institute (CCI) at the American University of Beirut Medical Center, and resources were allocated for efficient interdisciplinary coordination to attract patients from neighboring countries such as Syria and Iraq, where such specialized therapy is also lacking. Through this program, care was coordinated across hospitals and borders such that patients would receive scheduled chemotherapy at their institution, and monthly retinal examinations and focal laser therapy at the CCI in Lebanon. Our results show the feasibility of successful collaboration across borders, with excellent patient and physician adherence to treatment plans. This was accompanied by an increase in patient referrals, which enables continued expertise development. However, the majority of patients presented with advanced intraocular disease, necessitating enucleation in 90% of eyes in unilateral cases, and more than 50% of eyes in bilateral cases. Future efforts need to focus on expanding the program that reaches to additional hospitals in both countries, and promoting early diagnosis, for further improvement of globe salvage rates.
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http://dx.doi.org/10.1002/pbc.27959DOI Listing
November 2019

β-blockers in the treatment of periocular infantile hemangioma.

Curr Opin Ophthalmol 2019 Sep;30(5):319-325

Ophthalmology Department, American University of Beirut Medical Center, Beirut, Lebanon.

Purpose Of Review: To evaluate the medical literature on the use of β-blockers, through different routes, for the treatment of periorbital infantile hemangiomas and to summarize the recommendations available on dosage and monitoring.

Recent Findings: β-blockers for the treatment of infantile hemangioma are now considered to be first-line treatment. Growing literature on the role of oral propranolol confirmed its efficacy but also presented its multiple side-effects including hypotension, bradycardia, hypoglycemia, and bronchospasm. No universal guidelines exist concerning pretreatment evaluation, dosage, monitoring, and duration of treatment but different protocols have been created.In the aim of minimizing side-effects, other routes of administration and more selective β-blockers have emerged. Many studies showed promising results for topical timolol especially in the treatment of superficial hemangiomas. Few studies evaluated intralesional propranolol. Limited data exist on the use of more selective β-blockers promising similar results to propranolol with fewer side-effects.

Summary: Oral β-blockers are now the mainstay of treatment for periorbital hemangiomas but still with no consensus on their administration and monitoring. The topical form or more selective β-blockers may be the solution to minimize side-effects.
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http://dx.doi.org/10.1097/ICU.0000000000000591DOI Listing
September 2019

Patterns of uveitis in children according to age: comparison of visual outcomes and complications in a tertiary center.

BMC Ophthalmol 2019 Jun 27;19(1):137. Epub 2019 Jun 27.

Department of Ophthalmology, American University of Beirut, Beirut, Lebanon.

Background: Uveitis in the pediatric population is uncommon, accounting for 2 to 14% of all uveitis cases, yet resulting in significant ocular morbidity. A number of studies have focused on patterns and complications of uveitis in the pediatric age group (≤ 16 years). In this report, we studied children with uveitis syndromes focusing on demographics, anatomic distribution, etiologies, treatment, and complications. We additionally divided subjects into two age groups to look into any differential characteristics pertaining to the younger age group and the role of amblyopia as a cause of visual loss.

Methods: Retrospective chart review of 80 eyes of 49 uveitis patients aged ≤16 years. Subjects were categorized by age of onset into visually immature (≤8 years) and visually mature group (> 8 years). Data compared between the two age groups included demographics, disease characteristics, visual outcomes and complications.

Results: Idiopathic uveitis was the most common diagnosis (51%). Anterior uveitis complications (posterior synechiae and band keratopathy) were more common in the younger group (p = 0.002 and p = 0.03 respectively) while posterior uveitis manifestations (vitreous haze and vasculitis) were more common in the older age group (p = 0.04 and p < 0.001 respectively). Amblyopia was the most common cause of vision loss in the visually immature versus cataract in the visually mature.

Conclusion: Anterior uveitis and its complications were more common in visually immature group in our cohort. Amblyopia was identified as the main cause of visual loss in the younger population.
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http://dx.doi.org/10.1186/s12886-019-1139-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6598272PMC
June 2019

Tomographic and Refractive Characteristics of Pediatric First-Degree Relatives of Keratoconus Patients.

Am J Ophthalmol 2019 11 10;207:71-76. Epub 2019 Jun 10.

Department of Ophthalmology, American University of Beirut Medical Center, Beirut, Lebanon.

Purpose: To evaluate the tomographic and refractive characteristics of pediatric first-degree relatives of patients with keratoconus.

Design: Cross-sectional study.

Methods: Setting: Department of Ophthalmology at the American University of Beirut Medical, Beirut, Lebanon.

Study Population: Pediatric first-degree relatives of patients with keratoconus. Both eyes of all participants aged between 6 and 18 years were included and studied.

Exclusion Criteria: Soft contact lens use in the past 2 weeks or rigid gas-permeable lens wear within 4 weeks, history of prior ocular surgery or infectious keratitis, and unreliable corneal tomography. Masking and Randomization: Two masked cornea and refractive surgeons of different training backgrounds independently evaluated the participants' tomographic outputs. Additionally, the tomographic data were analyzed using Smadja's decision tree.

Observation Procedures: Scheimpflug tomography, manifest refraction, and slit-lamp examination.

Main Outcome Measures: Anterior curvature indices, posterior elevation values, thinnest pachymetry, and subjective and objective tomographic interpretation.

Results: One hundred eighty-three subjects were recruited. Tomographic evaluation after Cohen's kappa coefficient analysis revealed 32 patients as having keratoconus (17.5%), while 35 patients (19.1%) were labeled as keratoconus by objective analysis. There were 11.5%-15.5% of patients with keratoconus aged less than 11 years, 18.0% aged 12-15 years, and 25.5% aged 16-18 years. Their respective steepest anterior curvature and thinnest pachymetry are 44.8 ± 6.5 diopters (D) and 515.9 ± 39.2 μm, 47.34 ± 3.4 D and 496.1 ± 37.9 μm, and 49.7 ± 6.1 D and 486.0 ± 66.5 μm. A total of 37.5% of the keratoconus patients were unilateral as evaluated by tomography alone.

Conclusions: The prevalence of keratoconus in pediatric first-degree relatives of diagnosed keratoconus patients is high. Screening in this high-risk group is warranted.
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http://dx.doi.org/10.1016/j.ajo.2019.05.032DOI Listing
November 2019

Degenerated hair follicle cells and partial loss of sebaceous and eccrine glands in a familial case of axenfeld-rieger syndrome: An emerging role for the FOXC1/NFATC1 genetic axis.

J Dermatol Sci 2018 Dec 10;92(3):237-244. Epub 2018 Nov 10.

Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon. Electronic address:

Background: Cutaneous malformations are at times associated with some forms of congenital heart defects. Many a times subtle cutaneous phenotypes maybe overlooked as their significance on the lives of individuals is minimal. Lebanon represents an area of high consanguinity, where the rates can go beyond 70% in some districts. For the past 6 years, we have been studying several genodermatoses in Lebanon including those with cardiac malformations.

Objectives: The main aim of this study is to document the genetic basis of a familial case of Axenfeld-Rieger Syndrome (ARS) with a mild cutaneous phenotype represented histologically with degeneration/ absence of hair follicles and incomplete formation of sebaceous and eccrine glands, in addition to the cardiac and ocular phenotypes.

Methods: Whole exome sequencing was performed on two identical-twins with ARS along with their affected father and non-affected mother. Sanger sequencing was used to confirm the mutation, and the effects of the mutations on protein function was assessed in vitro using transient transfections.

Results: A novel mutation inFOXC1 designated p.L240Rfs*75 was found in both twins and their father. The affected individuals share also a rare documented variant in NFATC1 designated p.V197 M. Both were absent from 200 Lebanese exomes. Our in vitro results suggested a gain of function activity of the FOXC1/NFATC1 complex, confirming its documented role in controlling murine hair follicle stem cells quiescence and regeneration.

Conclusion: This is the first documented human case with a mutation inFOXC1 regulating multi-organ developmental pathways that reflect a conserved mechanism in cell differentiation and proliferation.
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http://dx.doi.org/10.1016/j.jdermsci.2018.11.003DOI Listing
December 2018

High-Definition Optical Coherence Tomography of the Macula in Deprivational Amblyopia.

Ophthalmic Surg Lasers Imaging Retina 2018 03;49(3):198-204

Background And Objective: This study evaluated macular thickness in deprivational amblyopia and compared it to matched controls.

Patients And Methods: The authors present a cross-sectional study of patients with amblyopia from pediatric cataract and matched controls. Macular high-definition optical coherence tomography scans of each eye were acquired. Central macular thickness (CMT) and parafoveal thicknesses at 500 μm, 1,000 μm, and 1,500 μm in the nasal, temporal, inferior, and superior locations were measured.

Results: Thirty-four eyes were included: 14 eyes with deprivational amblyopia and 20 controls. In amblyopes, the mean age was 10.06 years ± 3.89 years and logMAR visual acuity (VA) was 0.41 ± 0.53, whereas in the control group, mean age was 8.96 years ± 1.89 years and mean logMAR VA was 0.03 ± 0.05. The macula in deprivational amblyopia was significantly thicker centrally compared to controls (P = .0013), but only tended to be thicker at 500 μm and thinner at 1,000 μm and 1,500 μm. Male gender, poorer VA, and hyperopic refraction positively correlated with CMT (P = .011, P = .018, and P = .038, respectively).

Conclusion: Eyes with deprivational amblyopia had increased CMT compared to controls, and this correlated with the severity of amblyopia. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:198-204.].
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http://dx.doi.org/10.3928/23258160-20180221-08DOI Listing
March 2018

Long-term outcomes of Ahmed tube implantation in pediatric glaucoma after multiple surgeries.

Int Ophthalmol 2018 Dec 20;38(6):2649-2652. Epub 2017 Oct 20.

Department of Ophthalmology, American University of Beirut Medical Center, Cairo Street, PO Box: 110236, Beirut, Lebanon.

Purpose: To report success of Ahmed glaucoma valve (AGV) implantation in eyes with pediatric glaucoma and subconjunctival scarring from previous surgeries.

Methods: A retrospective review of pediatric glaucoma patients who underwent AGV implantation after ≥ 2 previous surgeries with conjunctival scarring. Preoperative and postoperative parameters were recorded to study success, defined as intraocular pressure (IOP) < 22 mmHg with or without medications and without serious complications.

Results: Eleven eyes of 10 patients were included, and the mean age was 12.7 years. Diagnoses included primary childhood glaucoma, aphakic glaucoma, and anterior segment anomalies. Mean number of prior ocular surgeries was 3.3 (± 1.3). Final mean IOP was 17.5 (± 4.3) mmHg, significantly different from the preoperative mean of 24.8 (± 6.8) mmHg, p = 0.01. Mean number of anti-glaucoma medications also decreased significantly from 2.8 (± 1.5) to 1.4 (± 1.5), p = 0.02. The success rate was 82% at a mean follow-up of 51.6 (± 10.8) months. Complications were minor and transient.

Conclusion: Subconjunctival scarring did not increase the risk of failure of tube shunt surgery.
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http://dx.doi.org/10.1007/s10792-017-0743-8DOI Listing
December 2018

A Novel Mutation in in a Lebanese Family with Congenital Heart Disease and Anterior Segment Dysgenesis: Potential Roles for and in the Phenotypic Variations.

Front Cardiovasc Med 2017 20;4:58. Epub 2017 Sep 20.

Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon.

Congenital heart diseases (CHDs) are still the leading cause of death in neonates. Anterior segment dysgenesis is a broad clinical phenotype that affects the normal development of the eye, leading in most of the cases to glaucoma which is still a major cause of blindness for children and adolescents. Despite tremendous insights gained from genetic studies, a clear genotype-phenotype correlation is still difficult to draw. In Lebanon, a small country with still a high rate of consanguineous marriages, there are little data on the epidemiology of glaucoma amongst children with or without CHD. We carried out whole exome sequencing (WES) on a family with anterior segment dysgenesis, and CHD composed of three affected children with glaucoma, two of them with structural cardiac defects and three healthy siblings. The results unravel a novel mutation in (p. R127H) segregating with the phenotype and inherited from the mother, who did not develop glaucoma. We propose a digenic model for glaucoma in this family by combining the variant with a missense variant inherited from the father in the dermatopontin () gene. We also unravel a novel missense mutation predicted to be deleterious and present only in the patient with a severe ocular and cardiac phenotype. This is the first report on using WES to genetically characterize a family with both ocular and cardiac malformations. Our results support the usage of such technology to have a better genotype-phenotype picture for Mendelian-inherited diseases for which expressivity and penetrance are still not answered.
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http://dx.doi.org/10.3389/fcvm.2017.00058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5611365PMC
September 2017

Slipped extraocular muscles: characteristics and surgical outcomes.

Can J Ophthalmol 2017 Feb 18;52(1):42-47. Epub 2016 Nov 18.

Ophthalmology Department, American University of Beirut Medical Center, Beirut, Lebanon.

Objective: To study the frequency and characteristics of slipped extraocular muscles after strabismus surgery and report the postoperative outcomes longitudinally.

Design: Retrospective chart review.

Participants: Electronic medical records of 493 patients who underwent strabismus surgery and were found to have a slipped muscle intraoperatively were reviewed.

Methods: Records were retrieved and operative reports were screened for the presence of slipped muscles. Data pertaining to the eye examination and surgery were collected, including vision, ocular motility in all positions, duction limitations, slipped muscle, empty sheath length, amount of slippage, amount of advancement, and amount of recession of the antagonist muscle.

Results: Twelve patients (mean age 29.1 ± 6.4 years; 5 males) were found to have 15 slipped medial rectus muscles. Average amount of slippage was 15.7 ± 2.0 mm; from limbus empty sheath length was 5.9 ± 1.9 mm. Average preoperative deviation was 32.2 ± 10.0 prism diopters (PD) exotropia. Mean follow-up after corrective surgery was 13.3 months (1 week to 42 months). Four patients were transiently overcorrected postoperatively (7.0 ± 7.0 PD esotropia). The rest had mean residual exotropia of 13.5 ± 9.2 PD with a change of 26.6 ± 10.3 PD from baseline (p < 0.001). Intraoperative mean muscle movement was 10.3 ± 2.2 mm with a mean postoperative change of 2.6 PD for each 1 mm of muscle advancement. There was no significant increase over time in the postoperative angle of deviation during all follow-up periods except for 1 patient who was re-explored after 4 years.

Conclusions: Slipped muscle should be suspected in the presence of limited ductions and consecutive deviations after strabismus surgery. A change of 2.6 PD for every 1 mm of medial rectus muscle advancement was observed and maintained over time.
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http://dx.doi.org/10.1016/j.jcjo.2016.07.016DOI Listing
February 2017

Fornix-Based Versus Limbal-Based Conjunctival Trabeculectomy Flaps for Glaucoma: Findings From a Cochrane Systematic Review.

Am J Ophthalmol 2017 Feb 26;174:33-41. Epub 2016 Oct 26.

Department of Ophthalmology, American University of Beirut, Beirut, Lebanon.

Purpose: To compare effectiveness of fornix- and limbal-based conjunctival flaps in trabeculectomy surgery.

Design: Systematic review.

Methods: Setting: CENTRAL, MEDLINE, LILACS, ISRCTN registry, ClinicalTrials.gov, WHO, and ICTRP were searched to identify eligible randomized controlled trials (RCTs).

Study Population: RCTs in which benefits and complications of fornix- vs limbal-based trabeculectomy for glaucoma were compared in adult glaucoma patients.

Observation Procedure: We followed Cochrane methodology for data extraction.

Main Outcome Measures: Proportion of failed trabeculectomies at 24 months, defined as the need for repeat surgery or uncontrolled intraocular pressure (IOP) >22 mm Hg, despite topical/systemic medications.

Results: The review included 6 trials with a total of 361 participants, showing no difference in effectiveness between fornix-based vs limbal-based trabeculectomy surgery, although with a high level of uncertainty owing to low event rates. In the fornix-based and limbal-based surgery, mean IOP at 12 months was similar, with ranges of 12.5-15.5 mm Hg and 11.7-15.1 mm Hg, respectively. Mean difference was 0.44 mm Hg (95% CI -0.45 to 1.33) and 0.86 mm Hg (95% CI -0.52 to 2.24) at 12 and 24 months of follow-up, respectively. Mean number of postoperative glaucoma medications was similar between the 2 groups. Mean difference was 0.02 (95% CI -0.15 to 0.19) at 12 months. As far as postoperative complications, an increased risk of shallow anterior chamber was observed in the limbal-based group.

Conclusion: Similar efficacy of trabeculectomy surgery with respect to bleb failure or IOP control was observed in both types of conjunctival flap incisions. A significant difference was detected in the risk of postoperative shallow anterior chamber, which was increased in the limbal-based group.
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http://dx.doi.org/10.1016/j.ajo.2016.10.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5321540PMC
February 2017

Choroidal Changes in Anisometropic and Strabismic Children With Unilateral Amblyopia.

Ophthalmic Surg Lasers Imaging Retina 2016 Oct;47(10):900-907

Background And Objective: To detect changes in the choroidal layer at the macular area in amblyopic eyes.

Patients And Methods: A cross-sectional study of 50 amblyopic patients (20 strabismic and 30 anisometropic) and 50 controls was done. Cross-sectional images using enhanced depth optical coherence tomography (OCT) were taken. Thicknesses were measured subfoveally and at 1,500 µm nasally, temporally, inferiorly, and superiorly. Submacular corresponding choroidal areas were also computed. Parameters were compared between amblyopic eyes, fellow eyes, and controls.

Results: Significantly thicker choroid was detected in the subfoveal, temporal, and nasal locations (P = .007, .009, and .01, respectively) in amblyopic compared to fellow eyes; areas were also significantly greater temporally, nasally, and inferiorly. Significant differences in all choroidal measurements were found between amblyopic eyes and controls; these persisted only in the anisometropic subgroup.

Conclusion: Using enhanced depth OCT, the choroid of amblyopic eyes was observed to be thicker compared to normal fellow eyes and controls. [Ophthalmic Surg Lasers Imaging Retina. 2016;47:900-907.].
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http://dx.doi.org/10.3928/23258160-20161004-02DOI Listing
October 2016

Ophthalmologic Outcomes of Children Born Premature Without ROP: Correlations With Gestational Age and Psychomotor Development.

J Pediatr Ophthalmol Strabismus 2017 Jan 27;54(1):32-38. Epub 2016 Sep 27.

Purpose: To study ophthalmological outcomes of premature children with no retinopathy of prematurity (ROP) and correlate with neurodevelopmental outcomes.

Methods: A total of 69 former preterm infants were evaluated at 2 to 7 years of age. Detailed ophthalmologic examinations were performed. Neurodevelopment was assessed using the Peabody Developmental Motor Scale and Wechsler Preschool and Primary Scale of Intelligence. Another 69 healthy children served as controls.

Results: The 69 preterm children (38 of 69 boys) and 69 controls (38 of 69 boys) had a mean age of 4.9 ± 1.5 and 4.9 ± 1.4 years, respectively. Compared to controls, preterm infants had vision impairment of 19% versus 1.4% (P = .001), hyperopia of 87% versus 98.5% (P = .21), myopia of 11% versus 1.4% (P = .017), and astigmatism of 39% versus 30.4% (P = .37). Children with any motor disability tended to have worse vision.

Conclusions: In the absence of ROP, hyperopia was more common in infants 32 weeks or older who weighed more than 1,500 g at birth; other vision problems were similar in subgroups. This may represent impending myopia in those younger than 32 weeks weighing less than 1,500 g. [J Pediatr Ophthalmol Strabismus. 2017;54(1):32-38.].
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http://dx.doi.org/10.3928/01913913-20160831-02DOI Listing
January 2017

Fornix-based versus limbal-based conjunctival trabeculectomy flaps for glaucoma.

Cochrane Database Syst Rev 2015 Nov 25(11):CD009380. Epub 2015 Nov 25.

Ophthalmology Department, American University of Beirut Medical Center, Hamrah Street, PO Box 110236, Beirut, Lebanon.

Background: Glaucoma is one of the leading largely preventable causes of blindness in the world. It usually is addressed first medically with topical intraocular pressure-lowering drops or by laser trabeculoplasty. In cases where such treatment fails, glaucoma-filtering surgery is considered, most commonly trabeculectomy surgery with variations in technique, for example, the type of conjunctival flap (fornix- or limbal-based). In a fornix-based flap, the surgical wound is performed at the corneal limbus; while in a limbal-based flap, the incision is further away. Many studies in the literature compare fornix- and limbal-based trabeculectomy with respect to outcomes and complications.

Objectives: To assess the comparative effectiveness of fornix- versus limbal-based conjunctival flaps in trabeculectomy for adult glaucoma, with a specific focus on intraocular pressure (IOP) control and complications (adverse effects).

Search Methods: We searched CENTRAL (which contains the Cochrane Eyes and Vision Trials Register) (2015, Issue 9), Ovid MEDLINE, Ovid MEDLINE In-Process and Other Non-Indexed Citations, Ovid MEDLINE Daily, Ovid OLDMEDLINE (January 1946 to October 2015), EMBASE (January 1980 to October 2015), Latin American and Caribbean Health Sciences Literature Database (LILACS) (January 1982 to October 2015), the ISRCTN registry (www.isrctn.com/editAdvancedSearch), ClinicalTrials.gov (www.clinicaltrials.gov) and the World Health Organization (WHO) International Clinical Trials Registry Platform (ICTRP) (www.who.int/ictrp/search/en). We did not use any date or language restrictions in the electronic searches for trials. We last searched the electronic databases on 23 October 2015.We reviewed the bibliographic references of identified randomised controlled trials (RCTs) in order to find trials not identified by the electronic searches. We contacted researchers and practitioners active in the field of glaucoma to identify other published and unpublished trials.

Selection Criteria: We included RCTs comparing the benefits and complications of fornix- versus limbal-based trabeculectomy for glaucoma, irrespective of glaucoma type, publication status, and language. We excluded studies on children less than 18 years of age, since wound healing is different in this age group and the rate of bleb scarring postoperatively is high.

Data Collection And Analysis: Two review authors independently extracted data and assessed trial quality. We contacted study authors for additional information.The primary outcome was the proportion of failed trabeculectomies at 24 months. Failure was defined as the need for repeat surgery or uncontrolled IOP (more than 22 mmHg), despite additional topical/systemic medications. Needling and 5-fluorouracil (5-FU) injections were allowed only during the first six months postoperatively; additional needling or 5-FU injections were considered as failure. Mean post-operative IOP at 12 and 24 months also was recorded.

Main Results: The review included six trials with a total of 361 participants. Two studies were conducted in America and one each in Germany, Greece, India, and Saudi Arabia. The participants of four trials had open-angle glaucoma; one study included participants with primary open-angle or primary closed-angle glaucoma, and one study did not specify the type of glaucoma. Three studies used a combined procedure (phacotrabeculectomy). Trabeculectomy with mitomycin C (MMC) was performed in four studies, and trabeculectomy with 5-fluorouracil (5-FU) was performed in only one study.None of the included trials reported trabeculectomy failure at 24 months. Only one trial reported the failure rate of trabeculectomy as a late complication. Failure was higher among participants randomised to the limbal-based surgery: 1/50 eyes failed trabeculectomy in the fornix group compared with 3/50 in the limbal group (risk ratio (RR) 0.33, 95% confidence interval (95% CI) 0.04 to 3.10); therefore we are very uncertain as to the relative effect of the two procedures on failure rate.Four studies including 252 participants provided measures of mean IOP at 12 months. In the fornix-based surgeries, mean IOP ranged from 12.5 to 15.5 mmHg and similar results were noted in limbal-based surgeries with mean IOP ranging from 11.7 to 15.1 mmHg without significant difference. Mean difference was 0.44 mmHg (95% CI -0.45 to 1.33) and 0.86 mmHg, (95% CI -0.52 to 2.24) at 12 and 24 months of follow-up, respectively. Neither of these pooled analyses showed a statistically significant difference in IOP between groups (moderate quality of evidence).One trial reported number of anti-glaucoma medications at 24 months of follow-up with no difference noted between surgical groups. However, three trials reported the mean number of anti-glaucoma medications at 12 months of follow-up without significant difference in the mean number of postoperative IOP-lowering medications between the two surgical techniques. Mean difference was 0.02, (95% CI -0.15 to 0.19) at 12 months of follow-up (high quality of evidence).Because of the small numbers of events and total participants, the risk of many reported adverse events were uncertain and those that were found to be statistically significant may have been due to chance.For risk of bias assessment: although all six trials were randomised selection bias was mostly unclear, with unclear random sequence generation in four of the six studies and unclear allocation concealment in five of the six studies. Attrition bias was encountered in only one trial which also suffered from reporting bias. All other trials had an unclear risk of reporting bias as there was no access to study protocols. All included trials were judged to have high risk of detection bias due to lack of masking of the outcomes. Trabeculectomy is quite a standard procedure and unlikely to induce bias due to surgeon 'performance', hence performance bias was not evaluated.

Authors' Conclusions: The main result of this review was that there was uncertainty as to the difference between fornix- and limbal-based trabeculectomy surgeries due to the small number of events and confidence intervals that cross the null. This also applied to postoperative complications, but without any impact on long-term failure rate between the two surgical techniques.
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http://dx.doi.org/10.1002/14651858.CD009380.pub2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4734381PMC
November 2015

Is Inferior Oblique Overaction Associated With Astigmatism?

J Pediatr Ophthalmol Strabismus 2015 Sep-Oct;52(5):288-93. Epub 2015 Jun 15.

Purpose: To study the relationship between inferior oblique muscle overaction and astigmatism, and to explore any change in astigmatism after surgery.

Methods: This was a retrospective chart review of patients undergoing strabismus surgery. Demographic data collected included age, diagnosis, preoperative refraction, presence of inferior oblique overaction, surgery performed, and postoperative refraction. Patients were divided into three groups: those having only horizontal strabismus without inferior oblique overaction (no inferior oblique group) as a control group, those having bilateral inferior oblique overaction (bilateral inferior oblique group), and those having unilateral inferior oblique overaction (unilateral inferior oblique group). Right eyes of the bilateral inferior oblique and no inferior oblique groups were chosen for analysis, whereas the eye with inferior oblique overaction was included in the unilateral cases. Refractions were converted to power vector coordinates for comparison. Statistical analysis was performed to compare the power vectors among groups using the no inferior oblique group as controls and to explore any postoperative change in astigmatism.

Results: One hundred eighteen patients undergoing strabismus surgery were included (60 males and 58 females; mean age: 11.31 ± 10.59 years). Patients were divided into three groups: those having only horizontal strabismus without inferior oblique overaction (no inferior oblique group; 60 patients) as controls, those having bilateral inferior oblique overaction (bilateral inferior oblique group; 41 patients), and those having unilateral inferior oblique overaction (unilateral inferior oblique group; 17 patients). Preoperatively, there were no differences in astigmatism when comparing eyes with and without inferior oblique overaction. Postoperatively, both the no inferior oblique group and the bilateral inferior oblique group equally showed an increase in with-the-rule cylinder power (P = .02 and .01, respectively).

Conclusions: Inferior oblique muscle overaction did not result in an increased prevalence of astigmatism along the axis of the overacting muscle.
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http://dx.doi.org/10.3928/01913913-20150609-01DOI Listing
May 2016

Transposition surgery for inferior rectus fibrosis.

J Pediatr Ophthalmol Strabismus 2015 Mar 4;52 Online:e1-3. Epub 2015 Mar 4.

Congenital fibrosis of the extraocular muscles is a rare hereditary strabismus disorder. A case of congenital fibrosis of the inferior rectus muscles with severe chin-up posture and bilateral limitation of up gaze is reported. Bilateral large recessions of the tight inferior rectus muscles provided only partial improvement. Residual head posture and hypotropia were successfully corrected with bilateral horizontal rectus muscle transpositions toward the superior rectus muscles, despite persistently tight inferior rectus muscles at the time of surgery.
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http://dx.doi.org/10.3928/01913913-20150224-01DOI Listing
March 2015

Indocyanine Green-Enhanced Thermotherapy for Retinoblastoma.

Ocul Oncol Pathol 2015 Feb 31;1(2):77-82. Epub 2014 Oct 31.

Department of Ophthalmology, American University of Beirut Medical Center, Beirut, Lebanon.

Purpose: To report the outcome of pediatric patients with retinoblastoma refractory to traditional local therapy who were treated with indocyanine green (ICG)-enhanced thermotherapy.

Materials And Methods: This is a retrospective review of a case series of 3 patients with bilateral retinoblastoma who were treated with ICG-enhanced thermotherapy after showing no response to conventional chemothermotherapy or transpupillary thermotherapy (TTT) alone noted on two consecutive examinations under anesthesia.

Results: The 3 patients had had one eye enucleated previously due to advanced disease, and the remaining eye was diagnosed with a large tumor, which showed either a marginal or no response to systemic chemotherapy and TTT. Addition of ICG enhancement during the subsequent TTT session shrunk the tumor to a measurable size that could then be followed by TTT alone as a means of treatment. One patient had tumor recurrence, at which time additional TTT without ICG was successfully applied after the tumor size had decreased; ICG enhancement was then added whenever TTT alone provided no response.

Conclusions: ICG enhancement with TTT led to a measurable tumor regression in lesions that had previously not been responsive to traditional chemothermotherapy or isolated TTT.

Message: These tumors had shown a minimal to no response to previous TTT treatment. However, adding ICG resulted in a measurable regression even though the same TTT treatment parameters were applied.
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http://dx.doi.org/10.1159/000368558DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4873706PMC
February 2015

Interocular symmetry in macular choroidal thickness in children.

J Ophthalmol 2014 24;2014:472391. Epub 2014 Nov 24.

Department of Ophthalmology, American University of Beirut Medical Center, P.O. Box 110236, Beirut, Lebanon.

Objective. To report interocular differences in choroidal thickness in children using spectral domain optical coherence tomography (SD-OCT) and correlate findings with biometric data. Methods. This observational cross-sectional study included 91 (182 eyes) healthy children aged 6 to 17 years with no ocular abnormality except refractive error. After a comprehensive eye exam and axial length measurement, high definition macular scans were performed using SD-OCT. Two observers manually measured the choroidal thickness at the foveal center and at 1500 µm nasally, temporally, inferiorly, and superiorly. Interocular differences were computed; correlations with age, gender, refractive error, and axial length were performed. Results. Mean age was 10.40 ± 3.17 years; mean axial length and refractive error values were similar between fellow eyes. There was excellent correlation between the two observers' measurements. No significant interocular differences were observed at any location. There was only a trend for right eyes to have higher values in all thicknesses, except the superior thickness. Most of the choroidal thickness measurements correlated positively with spherical equivalent but not with axial length, age, or gender. Conclusion. Choroidal thickness measurements in children as performed using SD-OCT revealed a high level of interobserver agreement and consistent interocular symmetry. Values correlated positively with spherical equivalent refraction.
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http://dx.doi.org/10.1155/2014/472391DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4265376PMC
December 2014

Effect of general anesthesia and muscle relaxants on keratometry measurements using a handheld keratometer.

J Pediatr Ophthalmol Strabismus 2014 Sep-Oct;51(5):308-12. Epub 2014 Jul 22.

Purpose: Keratometry measurements are often obtained under general anesthesia in the supine position in difficult patients and pediatric procedures. This study investigates the effect of general anesthesia and muscle relaxants on keratometry readings using a handheld keratometer.

Methods: Fifty patients (with no history of intraocular surgery or corneal pathology) undergoing general anesthesia were prospectively enrolled. Keratometry readings were obtained using the Nidek KM-500 handheld keratometer (Nidek, Inc., Fremont, CA). in three settings: when the patient was awake in the upright and supine positions, and after general anesthesia. Readings were averaged in each eye and compared among the three settings; patients were also subgrouped by whether muscle relaxants were administered at induction. Intraclass correlation coefficients were calculated and Bland-Altman analysis was performed.

Results: Keratometry readings were comparable between the upright and supine positions before anesthesia in all groups. In the muscle relaxant group, keratometry readings were flatter after anesthesia and this was statistically significant for right eyes (P = .02), but not for left eyes (P = .16). In the group with no muscle relaxant, no significant differences were noted. Intraclass correlation coefficients of the differences were high (≥ 0.97) for all eyes in both groups and Bland-Altman plots showed most of the differences to be within the limits of agreement.

Conclusions: Keratometry readings using the handheld keratometer obtained under general anesthesia were as reliable as readings obtained in the awake state, regardless of posture; administration of muscle relaxants at induction may produce flatter keratometry readings.
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http://dx.doi.org/10.3928/01913913-20140715-02DOI Listing
May 2015

Genotype/Phenotype Correlation in Primary Congenital Glaucoma Patients in the Lebanese Population: A Pilot Study.

Ophthalmic Genet 2016 18;37(1):31-6. Epub 2014 Jun 18.

b Department of Pathology and Laboratory Medicine , Medical Genetics, American University of Beirut Medical Center , Beirut , Lebanon.

Background: The incidence of primary congenital glaucoma (PCG) varies among geographic regions and ethnic groups. The frequency of PCG in Lebanon and identification of disease-causing mutations have not been studied previously.

Purpose: To investigate the role of Cytochrome P1B1 (CYP1B1) gene and Myocillin (MYOC) gene mutations in PCG in the Lebanese population and study possible genotype/phenotype correlations.

Methods: Patients with unilateral or bilateral PCG diagnosed at the American University of Beirut Medical Center and their first-degree relatives (parents and siblings) were screened for CYP1B1 and MYOC mutations. Demographic and phenotypic characteristics were recorded. Phenotypic characteristics pertaining to disease severity and outcomes were compared.

Results: Eighteen Lebanese families (66 subjects) with at least one member affected with PCG were included in this study. Mutations in the CYP1B1 gene were detected in 6 families (33%). Five previously described mutations (p.R444Q; p.E229K; p.R469W; p.G61E; p.M1T) and one new single nucleotide deletion were identified (1793delC). Patients in whom CYP1B1 mutations were detected tended to have a more severe phenotype as evidenced by earlier age at diagnosis, higher rate of bilateral disease, and higher number of glaucoma surgeries than those in whom no CYP1B1 mutations were present. MYOC gene mutations were not detected in any patients.

Conclusion: The rate of CYP1B1 mutations in Lebanese patients with PCG is lower than that reported in other Arab and Middle Eastern populations and suggests other genes are responsible for PCG in the remainder.
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http://dx.doi.org/10.3109/13816810.2014.924015DOI Listing
September 2016

Spectral domain optical coherence tomography in children: normative data and biometric correlations.

BMC Ophthalmol 2014 Apr 22;14:53. Epub 2014 Apr 22.

Department of Ophthalmology, American University of Beirut, Beirut, Lebanon.

Background: The aim was to report normative values of retinal nerve fiber layer (RNFL) and macular parameters in children using spectral domain optical coherence tomography (OCT) and to perform correlations with age, refractive error and axial length.

Methods: This was an observational cross-sectional study recruiting 113 healthy children aged 6 to 17 years with no ocular abnormality except refractive error. After a comprehensive eye examination and axial length measurement, RNFL and macular thickness measurements were performed using the Cirrus OCT machine. Main outcome measures were macular volume, macular thickness and RNFL thickness values as well as their correlations with age, refractive error and axial length. Right eyes of all subjects were selected for analysis.

Results: One hundred and eight children were included in the study, 65 females and 43 males. Mean age was 10.7+/-3.1 years, average spherical equivalent refraction (SE) was -0.02+/-1.77(-4.25 to +5.00) diopters and average axial length was 23.5+/-1.0 (21.5 to 25.8)mm. Mean RNFL thickness was 95.6+/-8.7 μm, average macular thickness was 279.6+/-12.5 μm, central macular thickness was 249.1+/-20.2 μm, and mean macular volume was 10.1+/-0.5 mm(3). Central macular thickness values were significantly higher in males (p < 0.001). RNFL measurements did not correlate with age but did show a positive correlation with SE. All macular parameters were consistently positively correlated with age and most of them were positively correlated with SE. When controlling for axial length, only the macular inner circle thickness was positively correlated with age.

Conclusions: Using Cirrus OCT, normative RNFL and macular parameters in healthy children below 18 years of age were established; measurements varied by age and gender.
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http://dx.doi.org/10.1186/1471-2415-14-53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4008392PMC
April 2014

Interocular symmetry in retinal and optic nerve parameters in children as measured by spectral domain optical coherence tomography.

Br J Ophthalmol 2014 Apr 6;98(4):502-6. Epub 2014 Jan 6.

Department of Ophthalmology, American University of Beirut, , Beirut, Lebanon.

Background/aims: To report interocular differences in retinal nerve fibre layer (RNFL), optic nerve head and macular parameters in children using spectral domain optical coherence tomography (SD-OCT).

Methods: This was an observational cross-sectional study including 108 healthy children aged 6-17 years with no ocular abnormality except refractive error. After a comprehensive eye exam and axial length measurement, RNFL, optic nerve and macular thickness measurements were performed using the Cirrus OCT machine. Right and left eyes were compared and interocular differences were computed. Subjects were also divided into two groups based on age (under or over 10 years of age). Main outcome measures were interocular differences and their correlations with age and gender.

Results: The study included 108 children, mean age 10.7 ± 3.1 years; significant interocular differences were observed in both macular and RNFL parameters. The macular thickness analysis revealed interocular differences in the outer nasal and outer inferior quadrants, with left eyes displaying larger values. With respect to RNFL parameters, right eyes displayed thicker nasal and temporal quadrants, and inferior clock hours; left eyes had a thicker superior quadrant. The older age group (>10 years) had more pronounced variation in interocular differences compared with the younger group with less mature visual systems.

Conclusions: Normal variation in interocular symmetry exists. Our results can contribute to establishing a standard reference for interocular differences in OCT parameters in children aged 6-17 years using the Cirrus device.
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http://dx.doi.org/10.1136/bjophthalmol-2013-304345DOI Listing
April 2014