Search Our Scientific Publications & Authors

J Glaucoma 2020 May 8. Epub 2020 May 8.

Department of Ophthalmology, Faculty of Medicine, Gazi University, Ankara.

Purpose: The purpose of this study was to report 2 cases experiencing a transient decrease in their vision due to the development of acute myopia after an uneventful prolene gonioscopy-assisted transluminal trabeculotomy (GATT) surgery.

Methods: A 52-year-old woman with primary open-angle glaucoma and an 8-year-old boy with juvenile glaucoma underwent uneventful GATT surgery.

Results: On the postoperative first day, both patients had mild shallow anterior chamber and intraocular pressures measured as 19 and 16 mm Hg, respectively. Read More

J Ophthalmol 2020 13;2020:8642135. Epub 2020 Apr 13.

Experimental Ophthalmology, Department of Ophthalmology, University Medical Center of the Johannes Gutenberg University, Mainz 55131, Germany.

Purpose: Glaucoma, one of the leading causes of irreversible blindness worldwide, is a group of disorders characterized by progressive retinal ganglion cell (RGC) loss. Synucleins, a family of small proteins, have been of interest in studies of neurodegeneration and CNS. However, their roles and functions in glaucoma are still not completely understood and remain to be explored. Read More

Eye (Lond) 2020 Apr 16. Epub 2020 Apr 16.

Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India.

Purpose: Juvenile onset primary open angle glaucoma (JOAG) is a rare disorder associated with high IOP and progressive optic neuropathy in patients diagnosed before the age of 40 years. While in some populations it has primarily an autosomal dominant pattern of inheritance, in others it occurs in a primarily sporadic form. The main aim of the study was to assess the relative prevalence of Myocilin (MYOC) mutations in familial versus sporadic cases of JOAG. Read More

Ophthalmology 2020 Jun 7;127(6):758-766. Epub 2020 Jan 7.

Department of Ophthalmology, Flinders University, Adelaide, Australia.

Purpose: Developmental abnormalities of the ocular anterior segment in some cases can lead to ocular hypertension and glaucoma. CPAMD8 is a gene of unknown function recently associated with ocular anterior segment dysgenesis, myopia, and ectopia lentis. We sought to assess the contribution of biallelic CPAMD8 variants to childhood and juvenile open-angle glaucoma. Read More

Am J Ophthalmol 2020 Jan 13. Epub 2020 Jan 13.

Department of Ophthalmology, Medical University of Vienna, MUW.

Purpose: The purpose of the study was to evaluate the surgical approach, outcome and safety of bilateral simultaneous cataract surgery (BS-Cat) compared with unilateral cataract surgery (US-Cat) and bilateral two-timed cataract surgery (BT-Cat) in children.

Design: retrospective, interventional case series METHODS: Setting: Department of Ophthalmology, Medical University, Vienna,Participants: Children aged 0 to 18 years who received cataract extraction due to a uni- or bilateral cataract between January 2003 and December 2018 were included. Main outcomes and measures: Information regarding the type and duration of surgery, and total anesthesia time were recorded. Read More

Ophthalmology 2020 Jun 28;127(6):826-834. Epub 2019 Nov 28.

Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts; MCM Eye Unit, MyungSung Christian Medical Center and MyungSung Medical School, Addis Ababa, Ethiopia.

Purpose: To estimate the incidence of medication-free remission of chronic anterior uveitis and identify predictors thereof.

Design: Retrospective cohort study.

Participants: Patients diagnosed with anterior uveitis of longer than 3 months' duration followed up at United States tertiary uveitis care facilities. Read More

Am J Ophthalmol 2020 04 11;212:69-78. Epub 2019 Dec 11.

Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, USA. Electronic address:

Purpose: Despite the increasing use of microcatheters to perform 360-degree trabeculotomy, the rate of complete Schlemm's canalization in different forms of pediatric glaucoma is under-reported.

Design: Retrospective institutional observational case series.

Methods: Ocular diagnoses and surgical details of 60 pediatric patients (≤18 years old) who underwent trabeculotomy between 2013 and 2019 were collected. Read More

Graefes Arch Clin Exp Ophthalmol 2020 Feb 7;258(2):387-393. Epub 2019 Dec 7.

Department of Ophthalmology, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany.

Background: Canaloplasty is a well-established non-penetrating glaucoma surgery. Unsuccessful outcomes can be enhanced by micro-invasive 360° suture trabeculotomy (360°trabeculotomy), analyzed in this study.

Methods: This retrospective study included twenty eyes of 19 patients, mean age 59. Read More

Eur J Ophthalmol 2019 Dec 4:1120672119892440. Epub 2019 Dec 4.

Department of Ophthalmology & Visual Science, Rutgers New Jersey Medical School, Newark, NJ, USA.

Purpose: To introduce the use of the Kahook Dual Blade in the treatment of juvenile open-angle glaucoma.

Patients And Methods: A 14-year-old male was presented with juvenile open-angle glaucoma in the left eye. Ab interno trabeculectomy was performed using a dual-blade device. Read More

Pediatr Rheumatol Online J 2019 Nov 29;17(1):79. Epub 2019 Nov 29.

Abrahamson Pediatric Eye Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

Background: Refractory non-infectious uveitis is a serious condition that leads to ocular complications and vision loss and requires effective systemic treatment to control disease. The effectiveness of long-term infliximab [IFX] in refractory non-infectious childhood uveitis and the impact of treatment adherence on disease control were evaluated.

Methods: Retrospective, single-center study between December 2002 and April 2016 of 27 children with refractory non-infectious uveitis [17 with juvenile idiopathic arthritis, JIA] treated with long-term IFX [9+ months]. Read More

Ocul Immunol Inflamm 2019 Nov 5:1-8. Epub 2019 Nov 5.

Department of Ophthalmology, Ankara University, Ankara, Turkey.

: To report the manifestations, patterns of disease, treatment strategies and outcomes in pediatric patients with noninfectious uveitis.: Demographic information of 76 cases was recorded. Symptoms, anatomic location, laterality, visual acuity (VA), intraocular pressure, associated systemic diseases, therapeutic strategies, side effects, complications were reviewed. Read More

Cold Spring Harb Mol Case Stud 2019 12 13;5(6). Epub 2019 Dec 13.

Pediatric Genomics Discovery Program, Department of Pediatrics, Genomics, and Epigenetics Program, Yale University School of Medicine, New Haven, Connecticut 06520, USA.

Primary open-angle glaucoma (POAG) is the leading cause of irreversible blindness worldwide. Most cases are multifactorial in etiology, but some are associated with variants in the myocilin gene, Here, we report the identification of a novel variant, c.1153G>A, in a 24-yr-old female patient with a personal and family history of juvenile/early-onset POAG. Read More

Int Ophthalmol 2020 Feb 24;40(2):377-383. Epub 2019 Oct 24.

Department of Ophthalmology, Semmelweis University, Mária u. 39, Budapest, 1085, Hungary.

Purpose: To investigate the intraocular pressure (IOP)-lowering efficacy and tolerance of brinzolamide/brimonidine fixed combination (BBFC) under real-life conditions in a tertiary glaucoma centre.

Methods: Medical records of all ocular hypertensive and open-angle glaucoma patients (n = 52) treated with BBFC were retrospectively analysed.

Results: Thirty-nine patients had primary open-angle, 6 exfoliative, 2 pigment, 1 normal tension and 1 juvenile open-angle glaucoma and 3 ocular hypertension. Read More

Invest Ophthalmol Vis Sci 2019 10;60(13):4277-4284

Joint Shantou International Eye Center, Shantou University and the Chinese University of Hong Kong, Shantou, China.

Purpose: Juvenile-onset open-angle glaucoma (JOAG), if left untreated, will lead to severe visual disability. The purpose of this study was to identify the disease-causing mutations in a Chinese JOAG family.

Methods: We recruited a Chinese JOAG family and unrelated primary open-angle glaucoma (POAG) patients (270, Chinese), and performed whole-exome sequencing (WES) to screen the sequence variations. Read More

Br J Ophthalmol 2020 Jun 28;104(6):827-835. Epub 2019 Sep 28.

Dr Rajendra Prasad Centre for Ophthalmic Sciences, AIIMS, Delhi, India

Aim: To classify unrelated patients with juvenile onset primary open angle glaucoma (JOAG) into clinically useful phenotypes using cluster analysis.

Methods: Out of the 527 unrelated patients with JOAG, the study included 414 patients who had all the phenotypic characteristics required for the study. A cluster analysis was performed to classify the patients based on their iris and angle morphology, age of onset, highest untreated intraocular pressure (IOP), worst mean deviation and greatest vertical cup disc ratio of the worst eye. Read More

RMD Open 2019 5;5(2):e000933. Epub 2019 Aug 5.

RAISE reference centre for rare diseases, IMAGINE Institute, Immunologie, Hématologie et Rhumatologie Pédiatrique, Hopital universitaire Necker-Enfants malades, Assistance Publique Hopitaux de Paris, Paris, France.

Objective: To evaluate the demographics, aetiologies, complications, treatments and visual prognoses of chronic and recurrent non-infectious paediatric-onset uveitis in France.

Methods: Descriptive, retrospective and bicentric study in patients whose disease started before 17 and who were followed up in two centres from January 2010 to May 2017.

Results: We included 147 patients with 268 affected eyes. Read More

J Atten Disord 2019 Jul 31:1087054719865779. Epub 2019 Jul 31.

1 Central Research Institute of Ambulatory Health Care in Germany, Berlin, Germany.

This study examined the full spectrum of comorbid disorders in all statutory-health-insured children aged 5 to 14 years with ADHD in 2017 by using nationwide claims data in Germany. Children with ADHD ( = 258,662) were compared for the presence of 864 comorbid diseases with a control group matched by gender, age, and region of residence ( = 2,327,958). Among others, metabolic disorders (odds ratio [OR] = 9. Read More

Can J Ophthalmol 2019 08 15;54(4):e186-e188. Epub 2019 Jan 15.

Royal Eye Infirmary, Plymouth Hospitals NHS Trust, Plymouth, U.K.

Vet Ophthalmol 2020 Jan 22;23(1):141-147. Epub 2019 Jul 22.

Dick White Referrals, Six Mile Bottom, UK.

Purpose: To assess outcome of phacoemulsification in cats.

Methods: Records of 71 cats (82 eyes) from five referral centers were reviewed. Groups were divided by cause of cataract (congenital/juvenile [n = 32], traumatic [n = 33], and secondary to uveitis [n = 6]), and group comparisons were performed for the most common complications: postoperative ocular hypertension (POH), uveitis, corneal ulceration, synechia/dyscoria, and posterior capsular opacity (PCO) in three different time periods: immediately postoperatively, at 1-90 days, and at >90 days. Read More

Indian J Ophthalmol 2019 07;67(7):1202-1204

Department of Glaucoma, Raghudeep Eye Hospital, Gurukul Road, Memnagar, Ahmedabad, India.

Hypertriglyseridemia is a metabolic disorder that can cause vascular dysfucntion and be causally associated with glaucoma. Herein we present the case of a 16-year-old boy with hypertriglyseridemia with open-angle glaucoma. Read More

Zhonghua Yan Ke Za Zhi 2019 May;55(5):347-354

Department of Ophthalmology, Eye & ENT Hospital of Fudan University, Department of Ophthalmology & Visual Science, Shanghai Medical College of Fudan University, NHC Key Laboratory of Myopia (Fudan University), Laboratory of Myopia, Chinese Academy of Medical Sciences, Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai 200031, China.

To evaluate the outcomes of trabeculectomy combined with a new prophylactic sclerotomy in late stage juvenile open angle glaucoma (JOAG) and primary congenital glaucoma (PCG) patients at high risks of intraoperative and postoperative suprachoroidal hemorrhage (SCH). A retrospective case series study. Thirty-three eyes of 28 JOAG patients and 15 eyes of 12 PCG patients with high risk factors for severe choroidal effusion or SCH were enrolled from November 2006 to April 2012 at Eye and ENT Hospital of Fudan University. Read More

BMJ Case Rep 2019 May 24;12(5). Epub 2019 May 24.

Department of Paediatric Rheumatology, Bristol Royal Hospital for Children, Bristol, UK.

We report the case of a 6-year-old girl with juvenile idiopathic arthritis and anterior uveitis who was treated with two doses of intravenous methylprednisolone for acute arthritis. She developed severe ocular hypertension (intraocular pressures (IOPs) of 54 mm Hg in the right eye and 61 mm Hg in the left eye) requiring inpatient therapy with intravenous acetazolamide. The normal range of values for IOP is 12-22 mm Hg. Read More

J Glaucoma 2019 Jul;28(7):655-659

Department of Ophthalmology, Akron Children's Hospital, Akron, OH.

Precis: Glaucoma suspect was the most prevalent category in this study followed by glaucoma associated with acquired ocular anomaly and juvenile open-angle glaucoma. Primary congenital glaucoma was diagnosed in only 3% of the population studied.

Purpose: To describe the prevalence and clinical characteristics of childhood glaucoma diagnosed over a 10-year period among patients aged 18 years or below who were seen at a tertiary care children's hospital using the new Childhood Glaucoma Research Network classification system. Read More

Eur J Ophthalmol 2019 Apr 2:1120672119839303. Epub 2019 Apr 2.

1 Department of Ophthalmology and Visual Science, Yale School of Medicine, New Haven, CT, USA.

Purpose:: To describe our clinical experience with the efficacy and safety of micropulse transscleral cyclophotocoagulation as a treatment for glaucoma.

Methods:: In this retrospective case series, we reviewed the charts of 95 consecutive patients with various glaucoma subtypes who underwent micropulse transscleral cyclophotocoagulation. Patients were offered micropulse transscleral cyclophotocoagulation if they had perimetric glaucoma refractory to intraocular pressure-lowering topical medications and who were poor candidates for traditional filtering surgery. Read More

Ophthalmol Glaucoma 2018 Sep-Oct;1(2):132-138. Epub 2018 Aug 17.

institute for Vision Research, University of Iowa, Iowa City, IA, USA.

Objective: Mutations in myocilin ( may cause either juvenile open angle glaucoma (JOAG) or adult-onset primary open angle glaucoma (POAG). encodes a glycoprotein that is normally secreted from trabecular meshwork cells that regulate intraocular pressure. Prior transgenic rodent, and organ culture experiments have suggested that abnormal accumulation of MYOC protein within trabecular meshwork cells is a key step in glaucoma pathophysiology. Read More

Indian J Ophthalmol 2019 Apr;67(4):490-495

Department of Ophthalmology, Advanced Eye Centre, Post Graduate Institute of Medical Education and Research, Sector 12, Chandigarh, India.

Purpose: To evaluate the long-term outcomes of cataract surgery in children with uveitis.

Methods: Retrospective, noncomparative review of medical records of children (≤16 years) with uveitic cataract who had undergone cataract surgery between January 2001 and December 2014 at a tertiary care center was done. The main outcome measures were visual acuity and postoperative complications. Read More

J Autoimmun 2019 06 15;100:75-83. Epub 2019 Mar 15.

Department of Ophthalmology and Ophtha-Lab at St. Franziskus-Hospital, Münster, Germany; Department of Ophthalmology, University of Duisburg-Essen, Essen, Germany.

Gene and protein expression profiles of iris biopsies, aqueous humor (AqH), and sera in patients with juvenile idiopathic arthritis-associated uveitis (JIAU) in comparison to control patients with primary open-angle glaucoma (POAG) and HLA-B27-positive acute anterior uveitis (AAU) were investigated. Via RNA Sequencing (RNA-Seq) and mass spectrometry-based protein expression analyses 136 genes and 56 proteins could be identified as being significantly differentially expressed (DE) between the JIAU and POAG group. Gene expression of different immunoglobulin (Ig) components as well as of the B cell-associated factors ID3, ID1, and EBF1 was significantly upregulated in the JIAU group as compared to POAG patients. Read More

Mol Biol Res Commun 2018 Dec;7(4):181-186

Department of Human Genetics, Guru Nanak Dev University, Amritsar 143005, India.

In India, mutations in Cytochrome P450 () are a predominant cause of not only primary congenital glaucoma (PCG) but also involved in primary open angle glaucoma (POAG) and juvenile onset glaucoma (JOAG). After ethical clearance, 100 POAG patients, 30 primary angle closure glaucoma (PACG) patients and 130 ethnically matched controls were recruited in this study. Genomic DNA was isolated from the blood and screened for p. Read More

Indian J Ophthalmol 2019 Mar;67(3):358-365

VST Glaucoma Center, L V Prasad Eye Institute, Banjara Hills, Hyderabad, Telangana, India.

Purpose: To describe the prevalence of various types of childhood glaucomas, their clinical features and treatment methods.

Methods: We prospectively included consecutive children with glaucoma presenting to glaucoma clinic for the first time between March 2013 and May 2014. We classified childhood glaucomas as per the classification proposed by Congenital Glaucoma Research Network. Read More

Invest Ophthalmol Vis Sci 2019 01;60(1):161-167

Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

Purpose: To compare the distribution of visual field progression rates in three subgroups of glaucoma, being primary angle-closure glaucoma (PACG), POAG, and juvenile open-angle glaucoma (JOAG).

Methods: We assessed glaucoma patients treated in an Indian tertiary care setting with at least four visual field assessments. We determined rates from a single eye of each of 525 patients using linear regression of the summary index mean deviation (MD) over time. Read More

BMC Ophthalmol 2019 Jan 5;19(1). Epub 2019 Jan 5.

Department of Ophthalmology, Semmelweis University, Mária u. 39, Budapest, 1085, Hungary.

Background: We report a case of advanced juvenile open-angle glaucoma (JOAG) in which peripapillary capillary vessel density (PcVD) in the inferior retina showed significant progression while the spatially corresponding retinal nerve fiber layer thickness (RNFLT) and visual field cluster defect values had reached their minimal detectable values, and showed no change during the follow-up (floor effect).

Case Presentation: A 45-year old white female patient with very advanced under treatment JOAG in the left eye was prospectively investigated with the AngioVue OCT (Optovue Inc., Fremont, USA) for RNFLT and PcVD, and Octopus Normal G2 visual field testing, at 6-month intervals for 2. Read More

Turk J Ophthalmol 2018 12;48(6):295-298

University of Health Sciences, Ulucanlar Eye Research Hospital, Opthalmology Clinic, Ankara, Turkey

Objectives: Our aim was to compare the refractive status and anterior segment parameters of patients with juvenile open-angle glaucoma (JOAG) and normal subjects.

Materials And Methods: Twenty-five recently diagnosed cases of JOAG and 24 normal subjects were included in this prospective controlled clinical trial. Central corneal thickness (CCT), anterior chamber depth (ACD), lens thickness (LT), axial length (AL), K1 and K2 keratometry, and white-to-white distance (WTW) measurements were performed with optical biometry (LenStar LS 900, Haag Streit Diagnostics). Read More

Adv Exp Med Biol 2018;1085:43-48

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

X-linked juvenile retinoschisis (XLRS) occurs exclusively in males and is characterized by visual loss that begins in early childhood; patients are usually school-age and are experiencing visual disturbances, especially in reading. The prevalence is estimated to be 1 in 5000-25,000 men, worldwide. XLRS has complete penetrance but variable expressivity. Read More

BMC Ophthalmol 2018 Dec 17;18(1):323. Epub 2018 Dec 17.

Department of Ophthalmology, Chang-Gung Memorial Hospital, 222 Mai-Chin Rd, Keelung, 204, Taiwan (Republic of China).

Background: Leber's hereditary optic neuropathy (LHON) is a maternally inherited recessive disease rarely complicated with glaucoma. We conducted a clinical and genetic retrospective case series to describe three cases of juvenile open-angle glaucoma (JOAG) and an ND4 m11778G > A mitochondrial DNA (mtDNA) mutation, which is pathognomonic for LHON.

Case Presentation: Patient 1 was a 16-year-old boy diagnosed with bilateral JOAG and high myopia. Read More

J Glaucoma 2019 04;28(4):e53-e57

Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, TN.

Purpose: The purpose of this study was to report a case of optic disc cupping reversal in an adult without significant intraocular pressure-lowering treatment.

Patient: A 20-year-old female with a history of mild juvenile open-angle glaucoma who developed subjective blurred vision and a decrease in cupping of her optic discs.

Results: Dilated examination demonstrated decreased cup-to-disc ratios in both eyes with a slight blurring of the disc margin in the right eye. Read More

Ophthalmic Genet 2018 12;39(6):717-724

a Laboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering - CBMEG , University of Campinas - UNICAMP , Campinas , SP , Brazil.

Background: The purpose of this study was to screen juvenile open angle glaucoma (JOAG) patients from Brazil for variants within the MYOC and CYP1B1 genes.

Material And Methods: In this study, we evaluated the coding regions of MYOC and CYP1B1 genes in 100 non-related patients with JOAG and 200 controls through Sanger sequencing. We also tested the most frequent single nucleotide variants of CYP1B1 for association with JOAG. Read More

PLoS One 2018 16;13(11):e0207409. Epub 2018 Nov 16.

Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.

The aim of this study was to estimate the age of the Cys433Arg (c.1297T>C, p.Cys433Arg) variant by comparing the genotypes of individuals affected and not affected by primary open angle glaucoma juvenile onset (JOAG). Read More

Prog Retin Eye Res 2019 03 9;69:38-56. Epub 2018 Nov 9.

Laboratory for Retinal Regeneration, RIKEN Center for Developmental Biology, Kobe, Hyogo, 650-0047, Japan.

Cell replacement therapy is a promising treatment for irreversible retinal cell death in diverse diseases, such as age-related macular degeneration (AMD), Stargardt's disease, retinitis pigmentosa (RP) and glaucoma. These diseases are all characterized by the degeneration of one or two retinal cell types that cannot regenerate spontaneously in humans. Aberrant retinal pigment epithelial (RPE) cells can be observed through optical coherence tomography (OCT) in AMD patients. Read More

Genes (Basel) 2018 Oct 30;9(11). Epub 2018 Oct 30.

Department of Ophthalmology and Visual Sciences, University of Maryland School of Medicine, Baltimore, MD 21201, USA.

Juvenile open angle glaucoma (JOAG), which is an uncommon form of primary open angle glaucoma, is a clinically and genetically heterogeneous disorder. We report on a family with a recessively inherited form of JOAG. The proband has a superior and an inferior never fiber layer thinning in both the eyes and the nasal visual field (VF) defects in the left eye, which are clinical findings consistent with glaucomatous optic neuropathy. Read More

Can J Ophthalmol 2018 10 14;53(5):482-486. Epub 2018 Mar 14.

Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Alta.. Electronic address:

Objective: To determine the efficacy and safety of ab interno trabeculectomy with Trabectome in juvenile open-angle glaucoma (JOAG) patients.

Design: Prospective cohort study.

Methods: Evaluation of the 12-month results of 2 patient groups receiving ab interno trabeculectomy: group 1, eyes with no prior incisional surgery; group 2, eyes that had prior incisional cataract or glaucoma surgery. Read More

Eur J Ophthalmol 2019 Sep 12;29(5):494-498. Epub 2018 Sep 12.

St. Erik Eye Hospital, Stockholm, Sweden.

Purpose: To evaluate the long-term outcome after cataract surgery with primary intraocular lens implantation in children with juvenile idiopathic arthritis-associated uveitis.

Methods: The medical records of all 24 children (34 eyes) with chronic juvenile idiopathic arthritis-associated uveitis who underwent cataract surgery between 1990 and 2013 were reviewed retrospectively. Primary intraocular lens implantation was performed in all patients. Read More

Am J Med Genet A 2018 09 4;176(9):1964-1967. Epub 2018 Sep 4.

Wills Eye Hospital, Philadelphia, Pennsylvania.

Emanuel syndrome is caused by a supernumerary der(22)t(11;22) and typically manifests with intellectual disability and craniofacial dysmorphism. Ocular abnormalities have infrequently been described. We report a 36-year-old man with severe intellectual disability, aphasia, and facial dysmorphism, with high myopia and juvenile open angle glaucoma (JOAG). Read More

Clin Ophthalmol 2018 10;12:1413-1416. Epub 2018 Aug 10.

Glaucoma Research Chair, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia,

Cytochrome P450 Family 1 Subfamily B Member 1 (; OMIM# 601771) gene encodes one of the cytochrome P450 family of enzymes. mutations have been associated primarily with primary congenital glaucoma (PCG). Similar studies were reported in juvenile open-angle glaucoma, Rieger's and Peters anomalies. Read More

Curr Opin Ophthalmol 2018 Sep;29(5):385-394

Sidney Kimmel Medical College at Thomas Jefferson University.

Purpose Of Review: The Childhood Glaucoma Research Network (CGRN) has created a new classification system for childhood glaucoma that has become the first International Consensus Classification. The purpose of this review is to present this classification system and share its use to date.

Recent Findings: The diagnoses of the classification system include glaucoma and glaucoma suspect. Read More

Pediatr Rheumatol Online J 2018 Aug 6;16(1):51. Epub 2018 Aug 6.

University Hospitals Bristol NHS Foundation Trust, Bristol, UK.

Background: There is a paucity of data on the ocular outcomes in paediatric non-infectious uveitis since the introduction of the biologic agents. The purpose of this study was to outline the clinical characteristics of children with non-infectious uveitis and determine the visual outcomes and ocular complication rates in the modern era.

Methods: Children with non-infectious uveitis from January 2011 to December 2015 were identified. Read More

Ophthalmic Genet 2018 10 6;39(5):625-627. Epub 2018 Aug 6.

a Moorfields Eye Hospital NHS Foundation Trust , London , United Kingdom.

X-Linked Retinoschisis (XLRS) is a common genetically determined form of macular degeneration affecting young males. XLRS is due to mutations in the RS1 gene located on chromosome Xp22 which codes for retinoschisin and is estimated to affect between 1:5000 to 1:20000 individuals worldwide. We report a case of refractory angle-closure glaucoma in a thirty-nine-year-old Caucasian man with atypical XLRS. Read More

Retin Cases Brief Rep 2018 Jul 30. Epub 2018 Jul 30.

Department of Ophthalmology, Medical University of Graz, Graz, Austria.

Purpose: To present a case of unilateral stellate nonhereditary idiopathic foveomacular retinoschisis in a patient with macular telangiectasia (MacTel) Type 2.

Methods: Single-patient case report.

Results: A 61-year-old female white patient was referred to our clinic with metamorphopsia and reduction of visual acuity over a period of 2 months on her right eye. Read More

Curr Eye Res 2018 10 27;43(10):1267-1273. Epub 2018 Jul 27.

a Experimental Ophthalmology, Department of Ophthalmology , University Medical Center of the Johannes Gutenberg University Mainz , Mainz , Germany.

Purpose: Glaucoma is one of the leading causes of blindness worldwide with age being an important risk factor. However, the pathogenesis remains poorly understood. Aim of this study was to focus on age-dependent molecular changes in an experimental animal model of glaucoma. Read More

J Glaucoma 2018 11;27(11):e180-e182

Schepens Eye Research Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA.

Introduction: Glaucoma in patients with nonbullous congenital ichthyosiform erythroderma (NBCIE) is a rare entity that has not been described in a histologically confirmed case. We present a unique case of coexisting glaucoma, ichthyosis, and dwarfism that has not been previously described.

Methods: We present a case of NBCIE with glaucoma and dwarfism that presented to our outpatient department. Read More