Publications by authors named "Ken-K Nischal"

116 Publications

Use of Integrated Intraoperative Ocular Coherence Tomography in Pediatric Cataract Surgery: Thinking outside the Box.

Dev Ophthalmol 2021 Feb 16;61:1-7. Epub 2021 Feb 16.

UPMC Eye Center, Pittsburgh, Pennsylvania, USA,

The advent of integrated intraoperative optical coherence tomography (i2OCT) has opened the door for safer and more complex surgeries in the retina and cornea. However, to limit its use to just two subspecialties within ophthalmology is an opportunity lost for many other subspecialties. Here, we describe the use of i2OCT in pediatric cataract surgery in circumstances that are not traditionally considered for i2OCT use. The specific circumstances include: evaluation and treatment of a child following cataract extraction with lens implantation who has failed two attempts at YAG capsulotomy; lysis of post-trauma keratolenticular adhesion in an opaque cornea; surgical removal of secondary lens epithelial cell proliferation after pediatric cataract extraction with lens implantation, and identification of posterior capsular openings and defects. In each case the use of i2OCT allowed the procedure to be completed safely and successfully or informed the surgeon, allowing modification of the surgical decision tree.
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http://dx.doi.org/10.1159/000511815DOI Listing
February 2021

Integrated Intraoperative Optical Coherence Tomography in Pediatric Glaucoma Surgery.

Dev Ophthalmol 2021 Feb 16;61:1-6. Epub 2021 Feb 16.

UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA,

The advent of integrated intraoperative optical coherence tomography (i2OCT) has opened the door for safer and more complex surgeries in the retina and cornea. However, to limit its use to just two subspecialties within ophthalmology is an opportunity lost for many other subspecialties. Here, we describe the use of i2OCT in pediatric glaucoma surgery. It can be used to identify Schlemm's canal, Barkan's membrane, demonstrate the corneal pathology in Haab's striae, and iris hypoplasia in cases of Axenfeld-Rieger anomaly. It can help identify drainage blebs that are filtering and those that are not, and identify successful drainage tube flushing. It has also been used to identify a ligating suture effect on a drainage tube. We describe these scenarios in relation to training and augmenting surgical techniques.
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http://dx.doi.org/10.1159/000511816DOI Listing
February 2021

Introduction.

Authors:
Ken K Nischal

Dev Ophthalmol 2021 Feb 15;61:1-3. Epub 2021 Feb 15.

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http://dx.doi.org/10.1159/000511814DOI Listing
February 2021

Transcriptome from opaque cornea of Fanconi anemia patient uncovers fibrosis and two connected players.

Mol Genet Metab Rep 2021 Mar 27;26:100712. Epub 2021 Jan 27.

UPMC Eye Center, Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.

Congenital corneal opacities (CCO) are a group of blinding corneal disorders, where the underlying molecular mechanisms are poorly understood. Phenotyping through specialized imaging and histopathology analysis, together with assessment of key transcriptomic changes (including glycosaminoglycan metabolic enzymes) in cornea(s) with CCO from a case of Fanconi anemia is the approach taken in this study to identify causal mechanisms. Based on our findings, we propose a novel mechanism and two key players contributing to CCO.
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http://dx.doi.org/10.1016/j.ymgmr.2021.100712DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7846932PMC
March 2021

Expansion of the ophthalmic phenotype of SPINT2-related syndromic congenital sodium diarrhea.

Am J Med Genet A 2021 Feb 5. Epub 2021 Feb 5.

Eye Center, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.

A 5-year-old girl presented with treatment-refractory dry eye and recurrent episodes of eye pain. She had been previously diagnosed with syndromic congenital sodium diarrhea (SCSD) caused by a pathogenic variant in SPINT2. Her local pediatric ophthalmologist had made the diagnosis of severe dry eye with corneal erosions, based on which, we arranged an eye exam under anesthesia (EUA) and punctal plug placement. Anterior segment optical coherence tomography (OCT) and corneal photographs were taken during the procedure. There are reports describing similar ophthalmic findings in this syndrome. However, to the best of our knowledge, this is the first case report to document OCT imaging and corneal photographs in a patient with SCSD, which we feel expands the ophthalmic phenotype of this rare genetic disorder.
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http://dx.doi.org/10.1002/ajmg.a.62094DOI Listing
February 2021

A sustained release cysteamine microsphere/thermoresponsive gel eyedrop for corneal cystinosis improves drug stability.

Drug Deliv Transl Res 2021 Feb 4. Epub 2021 Feb 4.

Department of Bioengineering, University of Pittsburgh, Pittsburgh, PA, 15261, USA.

Cystinosis is a rare, metabolic, recessive genetic disease in which the intralysosomal accumulation of cystine leads to system wide organ and tissue damage. In the eye, cystine accumulates in the cornea as corneal cystine crystals and severely impacts vision. Corneal cystine crystals are treated with cysteamine eyedrops when administrated 6 to 12 times day and used within 1 week. The strict dosing regimen and poor stability are inconvenient and add to the burden of therapy. To reduce the dosing frequency and improve the stability, we present reformulation of cysteamine into a novel controlled release eyedrop. In this work, we characterize and evaluate a topical drug delivery system comprised of encapsulated cysteamine in polymer microspheres with a thermoresponsive gel carrier. Spray-dried encapsulation of cysteamine was performed. In vitro cysteamine release, stability, and ocular irritation and corneal permeation were evaluated. The data suggest that encapsulated cysteamine improves the stability to 7 weeks when compared with 1-week aqueous cysteamine eyedrops. Release studies from one drop of our system show that cysteamine release was present for 24 h and above the minimum cysteamine eyedrop amount (6 drops). Cysteamine from our system also resulted in negligible irritation and enhanced permeation when compared with traditional cysteamine eyedrops. In vivo studies were implemented to support ease of administration, tolerability, and retention for 24 h. These studies suggest that our controlled release delivery system may provide stable cysteamine from a safe, once daily gel eyedrop.
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http://dx.doi.org/10.1007/s13346-020-00890-6DOI Listing
February 2021

Correction to: A comparison of the Grass strobe and new LED photic stimulator for paediatric electroretinogram recordings.

Doc Ophthalmol 2020 Dec 10. Epub 2020 Dec 10.

Department of Ophthalmology, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Centre, UPMC Eye Centre, Pittsburgh, PA, 15201, USA.

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http://dx.doi.org/10.1007/s10633-020-09804-wDOI Listing
December 2020

Traumatic Brain Injury in Children: Sport-related Concussions in Children.

J Binocul Vis Ocul Motil 2020 Oct-Dec;70(4):128-133

Division of Pediatric Ophthalmology, Strabismus, and Adult Motility, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine , Pittsburgh, Pennsylvania.

Concussion is a worldwide health concern among children and adolescents. Over the decades concussion has been gradually better recognized as an entity that accounts for a significant disability post head trauma in patients. Patients present with cognitive, somatic and oculo-vestibular symptoms that can be incapacitating. Most concussion symptoms are transient and resolve within 1-2 weeks but can persist for years. Concussion pathophysiology is complex and may not be fully understood but it involves numerous mechanisms including cellular metabolic derangements, cerebral blood inflow, and axonal disruption. With no associated objective biomarkers or visible pathologic brain changes, diagnosis of concussion can be challenging. Many organizations and collaborative groups have suggested numerous definitions and diagnostic criteria for concussion in an attempt to improve the evidence-based clinical assessments and therapies for concussion. Proper assessment and evaluation is crucial starting from counseling of the patient, gradual return to cognitive and physical activity in an individualized treatment plan to ensure a timely return to daily activities and full sport participation. This report provides a grasp over the current state of sport-related concussion knowledge, diagnosis, and clinical evaluation in children and adolescent, with a focus on the ocular symptoms and signs.
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http://dx.doi.org/10.1080/2576117X.2020.1826289DOI Listing
December 2020

A comparison of the Grass strobe and new LED photic stimulator for paediatric electroretinogram recordings.

Doc Ophthalmol 2020 Sep 21. Epub 2020 Sep 21.

Department of Ophthalmology, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Centre, UPMC Eye Centre, Pittsburgh, PA, 15201, USA.

Purpose: This study evaluated a new light-emitting diode (LED-S) photic stimulator and compared skin electroretinogram (ERG) responses obtained to those evoked by the Grass Instrument stimulator (GP-S).

Methods: Two sub-studies were combined to evaluate the difference in responses resulting from the LED-S and GP-S stimuli. The first was a photometry study that matched the LED-S stimuli to the GP-S. In the second study, electroretinograms (ERGs) were recorded under scotopic and photopic conditions using stimuli each stimulator. The stimuli were matched photometrically to measurements obtained from the photometer located 30 cm in front of the stimulators. In addition, the ERG responses were recorded from the LED stimulator when photometrically matched to the GP-S blue stimulus presented through a ganzfeld. The amplitudes and time peaks of the resulting ERG a- and b-waves were then measured and compared using paired T-tests.

Results: Study 1: The LED-S was matched to the GP-S at various intensity settings measured 30 cm away from the stimulator. Measurement through a ganzfeld full-field stimulator (GFFS) demonstrated that the GP-S had a significant hot spot centrally. Study 2: Photometrically matched ERGs evoked by both stimulators while employing the direct head-on measurements demonstrated multiple similarities. Similarities included component morphology, amplitude and implicit time across the two stimulators, excluding the rod-driven stimulus (GP-S setting employing a blue filter). Differences between the rod-driven ERGs evoked by the GP-S and LED-S while employing head-on photometric measurements were due to the significant difference in intensities between the two stimulators. The GP-S and LED-S evoked similar rod-driven ERG responses when they were matched using the GFFS photometrically matched intensities protocol.

Conclusion: A hand-held stimulator is essential when recording ERG's in the practice of paediatric visual electrophysiology. The LED-S can match the GP-S stimulus intensities, making it a potential replacement for the GP-S. In addition, the LED-S has uniform intensity across the surface of the device compared to the GP-S, is silent for standard stimuli and can generate prolonged duration stimuli for the recording of on-off ERGs.
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http://dx.doi.org/10.1007/s10633-020-09793-wDOI Listing
September 2020

Written in Blood: Applying Shape Grammars to Retinal Vasculatures.

Transl Vis Sci Technol 2020 08 24;9(9):36. Epub 2020 Aug 24.

Department of Mechanical Engineering, Carnegie Mellon University, Pittsburgh, PA, USA.

Purpose: Blood vessel networks within the retina are crucial for maintaining tissue perfusion and therefore good vision. Their complexity and unique patterns often require a steep learning curve for humans to identify trends and changes in the shape and topology of the networks, even though there exists much information important to identifying disease within them.

Methods: Through image processing, the vasculature is isolated from other features of the fundus images, forcing the viewer to focus on the complex vascular feature. This article explores an approach using a grammar based on shape to describe retinal vasculature and to generate realistic and increasingly unrealistic artificial vascular networks that are then reviewed by ophthalmologists via digital survey. The ophthalmologists are asked whether these artificial vascular networks appeared realistic or unrealistic.

Results: With only three rules (initiate, branch, and curve), the grammar accomplishes these goals. Networks are generated by adding noise to rule parameters present in existing networks. Via the survey of synthetic networks generated with different noise parameters, a correlation between noise in the branch rule and realistic association is revealed.

Conclusions: By creating a language to describe retinal vasculature, this article allows for the potential of new insight into such an important but less understood feature of the retina, which in the future may play a role in diagnosing or helping to predict types of ocular disease.

Translational Relevance: Applying shape grammar to describe retinal vasculature permits new understanding, which in turn provides the potential for new diagnostic tools.
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http://dx.doi.org/10.1167/tvst.9.9.36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7453052PMC
August 2020

Developing a pediatric ophthalmology telemedicine program in the COVID-19 crisis.

J AAPOS 2020 08 2;24(4):204-208.e2. Epub 2020 Sep 2.

UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania. Electronic address:

Purpose: To describe our methodology for implementing synchronous telemedicine during the 2019 novel coronavirus (COVID-19) pandemic.

Methods: A retrospective review of outpatient records at a single children's hospital from March 21 to April 10, 2020, was carried out to determine the outcome of already-scheduled face-to-face outpatient appointments. The week leading up to the March 21, all appointments in the study period were categorized as follows: (1) requiring an in-person visit, (2) face-to-face visit that could be postponed, and (3) consultation required but could be virtual. Teams of administrators, schedulers, and ophthalmic technicians used defined scripts and standardized emails to communicate results of categorization to patients. Flowcharts were devised to schedule and implement telemedicine visits. Informational videos were made accessible on social media to prepare patients for the telemedicine experience. Simultaneously our children's hospital launched a pediatric on-demand e-consult service, the data analytics of which could be used to determine how many visits were eye related.

Results: A total of 237 virtual ophthalmology consult visits were offered during the study period: 212 were scheduled, and 206 were completed, of which 43 were with new patients and 163 with returning patients. Following the initial virtual visit, another was required on average in 4 weeks by 21 patients; in-person follow-up was required for 170 patients on average 4.6 months after the initial virtual visit. None needed review within 72 hours. The pediatric on-demand service completed 290 visits, of which 25 had eye complaints.

Conclusions: With proper materials, technology, and staffing, a telemedicine strategy based on three patient categories can be rapidly implemented to provide continued patient care during pandemic conditions. In our study cohort, the scheduled clinic e-visits had a low no-show rate (3%), and 8% of the on-demand virtual access for pediatric care was eye related.
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http://dx.doi.org/10.1016/j.jaapos.2020.05.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7467070PMC
August 2020

Ocular findings of albinism in related intellectual disability syndrome.

Ophthalmic Genet 2020 12 24;41(6):650-655. Epub 2020 Aug 24.

UPMC Eye Center , Pittsburgh, PA, USA.

Background: Pathogenic variants in are associated with -related intellectual disability syndrome (DIDS). Common features of this diagnosis include microcephaly, intellectual disability, speech impairment, and distinct facial features. Reported ocular features include deep-set eyes, myopia, and strabismus. We present a case of -related intellectual disability syndrome with ocular findings of albinism and explore the possible pathogenesis of this previously unreported manifestation.

Materials And Methods: This is a single, retrospective case report of a child with DIDS who underwent an ophthalmic exam including detailed visual electrophysiology. : A 21-month-old female with microcephaly, failure to thrive, language delay, cleft palate, and cardiac defects had an ophthalmic exam showing myopia, strabismus, a hypopigmented fundus and crossed asymmetry on visual evoked potential (VEP), consistent with ocular findings of albinism. Whole exome sequencing identified a pathogenic variant; no albinism gene variants were reported. Her constellation of features is consistent with a diagnosis of -related intellectual disability syndrome; however, ocular features of albinism have not previously been reported in this condition.

Conclusions: This is, to the best of our knowledge, the first report of ocular findings of albinism in a case of -related intellectual disability syndrome. We propose that ocular albinism is a novel ocular phenotype of -related disease. Ophthalmic exams in patients with this diagnosis should include thorough evaluation for ocular albinism, including VEPs.
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http://dx.doi.org/10.1080/13816810.2020.1814349DOI Listing
December 2020

Clinical spectrum of non-syndromic microphthalmos, anophthalmos and coloboma in the paediatric population: a multicentric study from North India.

Br J Ophthalmol 2020 Aug 22. Epub 2020 Aug 22.

Aims: To describe the clinical features, visual acuity and causes of ocular morbidity in children (0-18 years) with microphthalmos, anophthalmos, and coloboma (MAC) from North India.

Methods: A retrospective study conducted between October 2017 and September 2018 in three tertiary eye institutes, part of the Bodhya Eye Consortium with consensus led common pro formas. Children with complete clinical data and without syndromic/systemic involvement were included. The clinical phenotype was divided into isolated ocular coloboma (CB), coloboma with microcornea (CBMC), colobomatous microphthalmos (CBMO), non-colobomatous microphthalmos (MO) and anophthalmos (AO).

Results: A total of 532 children with MAC were examined. Seventeen records were excluded due to incomplete data (0.2%). 515 children (845 eyes) were included: 54.4% males and 45.6% females. MAC was unilateral in 36% and bilateral in 64%. CB, CBMC, CBMO, MO and AO were seen in 26.4%, 31%, 22%, 8% and 12.5% of eyes, respectively. Nystagmus was found in 40%, strabismus in 23%, cataract in 18.7% and retinal detachment in 15%. Best-corrected visual acuity (BCVA) of <3/60 was seen in 62.4% eyes. Blindness (BCVA <3/60 in better eye) was seen in 42.8% of bilateral patients. Those with microcornea or microphthalmos with coloboma had worse BCVA (p<0.001). There were regional differences in the type of MAC phenotype presenting to the three institutes.

Conclusion: The MAC group of disorders cause significant ocular morbidity. The presence of microcornea or microphthalmos with coloboma predicts worse BCVA. The variation of the MAC phenotype with the district of origin of the patient raises questions of aetiology and is subject to further studies.
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http://dx.doi.org/10.1136/bjophthalmol-2020-316910DOI Listing
August 2020

Choroidal Deposits in a Patient With Mucopolysaccharidoses Type 1.

JAMA Ophthalmol 2020 08 13;138(8):e194435. Epub 2020 Aug 13.

Department of Ophthalmology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania.

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http://dx.doi.org/10.1001/jamaophthalmol.2019.4435DOI Listing
August 2020

Sympathetic ophthalmia presenting 5 days after penetrating injury.

Am J Ophthalmol Case Rep 2020 Sep 9;19:100816. Epub 2020 Jul 9.

Department of Ophthalmology, University of Pittsburgh Medical Center, 203 Lothrop Street, Pittsburgh, PA, USA.

Purpose: To describe a rare case of early sympathetic ophthalmia that presented 5 days after penetrating injury.

Observations: A 13-year-old boy presented with a penetrating left globe injury from a BB metallic projectile that was emergently repaired. Five days later, routine dilated exam of the right eye revealed interval development of vitritis over the posterior pole. Optical coherence tomography revealed fine, vitreous hyper-reflective material. Intravenous and topical steroid therapy was started, and the patient underwent prompt enucleation of the traumatized eye. Histopathologic examination of the globe demonstrated lymphocytic choroiditis and macrophage infiltration, consistent with prior reports of early sympathetic ophthalmia. The sympathizing eye maintained 20/20 acuity and never caused visual complaints.

Conclusions And Importance: This is the earliest reported case of sympathetic ophthalmia, to our knowledge, and it presented without visual symptoms only five days after penetrating trauma. This case suggests that routine examination should start before the typical 14 days associated with development of sympathetic ophthalmia.
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http://dx.doi.org/10.1016/j.ajoc.2020.100816DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7363657PMC
September 2020

Syndromic and Systemic Diagnoses Associated With Isolated Sagittal Synostosis.

Plast Reconstr Surg Glob Open 2019 Dec 30;7(12):e2540. Epub 2019 Dec 30.

Department of Ophthalmology, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, Pa.

Reports of systemic associations in patients with Isolated Sagittal Synostosis (ISS) are sparse. Craniofacial surgeons, and other providers, should be aware that a significant proportion of patients with ISS may have syndromic or systemic involvement. This study investigates the incidence of systemic disease and syndromic diagnosis in a cohort of patients presenting with ISS (ie, patients with sagittal synostosis without other sutural involvement).

Methods: This study consists of a retrospective review of patients diagnosed with ISS between 2007 and 2017 at a single institution. Patients were divided according to onset (early <1 year, late >1 year) of ISS. Patient notes were examined for congenital anomalies, systemic conditions, and molecular testing. Only patients with isolated sagittal fusion-meaning, patients with sagittal synostosis and no other sutural involvement-were included.

Results: Three hundred seventy-seven patients met the inclusion criteria: systemic conditions were identified in 188/377 (50%) of them. One hundred sixty-one patients with early onset (Group A), and 216 patients with late onset ISS (Group B) were identified. Systemic involvement was identified in 38% of Group A and 60% of Group B, which was statistically significant ( < 0.001). Forty-eight of 377 (13%) of patients had a syndromic diagnosis, and 79% of these were confirmed via genetic testing. Thirty-five percent of patients were diagnosed with central nervous system anomalies and 16% had craniofacial anomalies.

Conclusions: Nearly 50% of the patients initially diagnosed with ISS were found to have some form of systemic involvement. This supports affording full pediatric and genetic evaluation with molecular testing to these children.
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http://dx.doi.org/10.1097/GOX.0000000000002540DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7288895PMC
December 2019

Ophthalmology Practice During the Coronavirus Disease 2019 Pandemic: The University of Pittsburgh Experience in Promoting Clinic Safety and Embracing Video Visits.

Ophthalmol Ther 2020 May 6:1-9. Epub 2020 May 6.

1Department of Ophthalmology, University of Pittsburgh Medical Center, Pittsburgh, PA USA.

The coronavirus disease 2019 pandemic has led to widespread change as public health strategies for containment have emphasized social distancing and remaining at home. These policies have led to downscaled clinic volumes, cancellation of elective procedures, enhanced personal protective strategies in the clinic, and adoption of telemedicine encounters. We describe the evidence-based practical approach taken in our ophthalmology department to continue delivering eye care during the pandemic by rescheduling visits, enhancing clinic safety, and adopting virtual video encounters.
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http://dx.doi.org/10.1007/s40123-020-00255-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7201393PMC
May 2020

Lamellar keratoplasty in children.

Surv Ophthalmol 2020 Nov - Dec;65(6):675-690. Epub 2020 Apr 17.

Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.

Lamellar keratoplasty procedures have gained momentum in the field of corneal transplantation because of their inherent advantages over full-thickness penetrating keratoplasty. While penetrating keratoplasty is an open sky procedure fraught with sight-threatening intraoperative and postoperative complications, lamellar keratoplasties are relatively closed-system procedures that involve selective removal and replacement of diseased corneal layers and are free from these complications. Anterior lamellar procedures involve partial or lamellar replacement of anterior stroma and reduce the risk of graft rejection, retain structural integrity, and require less stringent donor criteria. Posterior lamellar procedures involve removal of the affected endothelium in eyes with relatively unaffected stroma. These procedures are associated with improved safety profile, accelerated wound healing, structurally stronger globe, and minimal astigmatism, thereby producing faster visual rehabilitation and timely initiation of amblyopia therapy in children. Although the use of lamellar grafts is increasing in adults, their relatively slower adoption in pediatric population is attributable to the steep learning curve and lack of long-term follow-up data. We describe the challenges associated with these procedures and their outcomes in pediatric eyes.
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http://dx.doi.org/10.1016/j.survophthal.2020.04.002DOI Listing
April 2020

Reply.

J AAPOS 2020 02 27;24(1):60-61. Epub 2020 Jan 27.

UPMC Eye Center, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania; University of Pittsburgh, School of Medicine.

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http://dx.doi.org/10.1016/j.jaapos.2020.01.001DOI Listing
February 2020

Development of Corneal Sensation With Remodeling of the Epithelium and the Palisades of Vogt After Corneal Neurotization.

Cornea 2020 May;39(5):657-660

Department of Ophthalmology, University of Pittsburgh Schools of Medicine and Engineering, Pittsburgh, PA.

Purpose: Neurotrophic keratopathy (NK) produces persistent epithelial erosion which is hard to treat effectively. Recently, corneal neurotization surgery has produced reinnervation of the cornea with resolving neurotrophic keratopathy. We hypothesized that the generation of corneal epithelial nerves after neurotization surgery would not only restore the integrity of corneal epithelium but also produce a change in the configuration of the palisades of Vogt (POV), which houses the corneal epithelial stem cells.

Methods: We assessed a patient with unilateral congenital corneal anesthesia with optical coherence tomography pre-neurotization and post-neurotization.

Results: Over the course of 2 years, the patient gained corneal epithelial sensation and corneal and limbal epithelium was restored to normal thickness with corresponding changes in the POV.

Conclusions: The intimate relationship between epithelium and sensory nerves of the cornea has been well documented; however, changes in the corneal epithelial stem cell niche in conjunction with development of innervation have not previously been reported. Considering the architecture of the corneal nerves in conjunction with the architecture of the POV may assist in developing treatments that can support the regeneration and maintenance of epithelium during nerve regeneration.
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http://dx.doi.org/10.1097/ICO.0000000000002269DOI Listing
May 2020

Serial, Visually-Evoked Potentials for the Assessment of Visual Function in Patients with Craniosynostosis.

J Clin Med 2019 Sep 27;8(10). Epub 2019 Sep 27.

Department of Ophthalmology, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, UPMC Eye Center, Pittsburgh, PA 15201, USA.

This study aimed to evaluate the effect of craniofacial surgical intervention on the visual pathway's function by comparing pre- to post-operative patterned, visually-evoked potentials (pVEP). A retrospective review was conducted on craniosynostosis patients who had pre- and post-craniofacial surgery pVEP testing. The pVEP measured grade in terms of amplitude latency and morphology of the waveforms. The pre- and post-operative results were compared. The study identified 63 patients (mean age at preoperative pVEP of 16.9 months). Preoperatively, 33 patients (52.4%) had abnormal pVEP. Nine patients had evidence of intracranial hypertension, and of those, eight (88.9%) had abnormal pVEP. Within 6 months postoperatively, 24 of 33 patients (72.7%) with abnormal preoperative pVEP developed normal postoperative pVEP, while all 30 patients with normal preoperative VEP maintained their normal results postoperatively. Significant improvements in pVEP latency in patients with broad or delayed latency waveforms was evident for subjects with preoperative grades 2-4 (grade 2, = 0.015; grade 3, = 0.029; grade 4; = 0.007), while significant postoperative increase in amplitude was significant for patients with abnormally low amplitude grade 3 and 5 waveforms (grade 3, = 0.011; grade 5, = 0.029). Serial pVEP testing represents a useful tool for the early detection of visual pathway dysfunction and follow up visual pathway function in craniosynostosis. Surgical intervention for craniosynostosis can result in the reversal of preoperative pVEP abnormalities seen in these patients, resulting in the normalization of the pVEP waveform, amplitude and latency, depending on the preoperative pVEP abnormality.
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http://dx.doi.org/10.3390/jcm8101555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6832611PMC
September 2019

Serial Visual Evoked Potentials in Patients with Craniosynostosis and Invasive Intracranial Pressure Monitoring.

Plast Reconstr Surg 2019 09;144(3):446e-452e

From the Department of Plastic Surgery, Cleft-Craniofacial Center, the Department of Ophthalmology, UPMC Eye Center, and the Department of Neurosurgery, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center; and the Plastic Surgery Department, Cleft and Craniofacial Unit, Sohag University Hospital.

This study aimed to detect the ability of pattern visual evoked potentials to detect visual pathway dysfunction in a cohort of patients with craniosynostosis who also had invasive intracranial pressure measurement. A retrospective review was conducted on craniosynostosis patients who had invasive intracranial pressure measurement and at least one pattern visual evoked potentials test. Reversal pattern visual evoked potentials were performed with both eyes open. Thirteen patients met the inclusion criteria (mean age at intracranial pressure measurement, 5.7 years). Seven patients had raised intracranial pressure, and of these, five (71.4 percent) had abnormal or deteriorated pattern visual evoked potentials parameters on serial testing, whereas all patients (100 percent) with normal intracranial pressure had normal pattern visual evoked potentials amplitude and latency. Four of the five patients (80 percent) with raised intracranial pressure and abnormal pattern visual evoked potentials did not show evidence of papilledema. The mean latency in patients with raised intracranial pressure (118.7 msec) was longer than in those with normal intracranial pressure (108.1 msec), although it did not reach statistical significance (p = 0.09), whereas the mean amplitude in patients with raised intracranial pressure (12.4 µV) was significantly lower than in patients with normal intracranial pressure (23.3 µV) (p = 0.03). The authors' results showed that serial pattern visual evoked potentials testing was able to detect visual pathway dysfunction resulting from raised intracranial pressure in five of seven craniosynostosis patients, and of these five patients, 80 percent had no evidence of papilledema, demonstrating the utility of serial pattern visual evoked potentials in follow-up of the visual function in craniosynostosis patients. CLINICAL QUESTION/LEVEL OF EVIDENCE:: Diagnostic, II.
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http://dx.doi.org/10.1097/PRS.0000000000005935DOI Listing
September 2019

Ophthalmic Manifestations of Mycoplasma-Induced Rash and Mucositis.

Cornea 2019 Oct;38(10):1305-1308

UPMC Eye Center, Pittsburgh, PA.

Purpose: Mycoplasma pneumoniae is a common cause of pediatric respiratory infections, with a quarter having extrapulmonary complications, most commonly a mucocutaneous eruption involving the ocular surface. A detailed description of the ophthalmic manifestations in Mycoplasma-induced rash and mucositis (MIRM) is currently lacking in the scientific literature.

Methods: This is a retrospective chart review of consecutive cases of MIRM at a tertiary referral children's hospital between October 1 and December 1, 2018, with up to 2 months of follow-up. Main outcomes and measures were demographic information, clinical examination findings including visual acuity, detailed anterior segment findings, and course of both ophthalmic and systemic disease.

Results: Five patients were included. Age range was 8 to 17 years (mean age 11.9 years, median 11 years), with a strong male preponderance (4:1). All patients had inflammatory conjunctivitis. One patient had recurrent conjunctival pseudomembrane formation, whereas 2 patients had lid margin and conjunctival ulceration. No cases had corneal involvement and visual outcomes were excellent.

Conclusions: MIRM is associated with ocular involvement in almost all cases. Although this is generally mild, conjunctival epithelial defects and pseudomembrane formation can occur. We recommend that pediatric ophthalmologists follow children who are hospitalized with MIRM as closely as they would those diagnosed with other mucocutaneous syndromes, such as Stevens-Johnson syndrome or toxic epidermal necrolysis.
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http://dx.doi.org/10.1097/ICO.0000000000001985DOI Listing
October 2019

Occipital Petalia and Albinism: A Study of Interhemispheric VEP Asymmetries in Albinism with No Nystagmus.

J Clin Med 2019 Jun 5;8(6). Epub 2019 Jun 5.

Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15201, USA.

The purpose of this study was to assess chiasmal misrouting in a cohort of children with albinism with no nystagmus using hemifield visual evoked potentials (VEP) measures.

Methods: Monocular VEPs were recorded and analyzed from three electrodes (O1, Oz, and O2 referred to Fz) from 16 children with albinism without nystagmus. Pattern reversal (full field and hemifield stimulation), full field pattern appearance and flash stimuli were used to evoke VEPs for each eye.

Results: The amplitude of the pattern reversal VEPs to stimulation of the hemifield corresponding to the crossing pathways were as expected significantly larger than those to the non-crossing in each eye ((right eye = 0.000004), (left eye = 0.001)). Pattern reversal VEPs recorded from the left hemisphere were also larger than those from the right and most evident when comparing the crossing pathways of each eye ( = 0.004).

Conclusions: This study has demonstrated electrophysiological differences in visual pathway function of the left and right hemisphere in subjects with albinism like that previously described in controls. Nasal field stimulation activated crossing and non-crossing pathways in patients with albinism and as a result, nasal hemifield VEPs in albinism are less lateralized compared to what is found in normal subjects.
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http://dx.doi.org/10.3390/jcm8060802DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6617331PMC
June 2019

RASopathy in Patients With Isolated Sagittal Synostosis.

Glob Pediatr Health 2019 12;6:2333794X19846774. Epub 2019 May 12.

Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.

RASopathy is caused by dysfunction in the pathway, and include syndromes like Noonan syndrome (NS), NS with multiple lentigines (formerly known as Leopard syndrome), cardiofaciocutaneous (CFC), Legius syndrome, capillary malformation-arteriovenous malformation, neurofibromatosis type 1, and Costello syndrome. When counted together, RASopathies affect 1/1000 live births, and are characterized by cardiovascular manifestations, short stature, developmental delay, renal, urogenital, skin/skeletal abnormalities, and dysmorphic appearance. NS-one of the most common RASopathies-occurs in 1/1000 to 1/2500 live births. On the other hand, the frequency of CFC is unknown, but it is one of the rarest RASopathies, with estimates of only a few hundred cases worldwide. However, its phenotype overlaps with that of NS. In this case series, we describe 5 patients with a clinical and genetic diagnosis of RASopathy-either NS or CFC-all of whom were also diagnosed with isolated sagittal synostosis (ISS). Medical records from ophthalmology, cardiology, plastic surgery, medical genetics, cleft craniofacial, and neurosurgery were used to determine patient history. In our cohort, late presentation of ISS was the predominant form of ISS presentation. We hope this report further characterizes the burgeoning relationship between RASopathy and ISS. Furthermore, these findings support including sagittal synostosis among the presenting features in the clinical phenotype of RASopathies. Ethical approval was obtained from the university's institutional review board.
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http://dx.doi.org/10.1177/2333794X19846774DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6540476PMC
May 2019

Intraocular lens implantation in children with cataract.

Lancet Child Adolesc Health 2019 07;3(7):e6-e7

Department of Clinical Neuroscience and Ophthalmology, Institute of Neuroscience and Physiology, The Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1016/S2352-4642(19)30151-8DOI Listing
July 2019

Personalized pediatric ophthalmology: a case report.

J AAPOS 2019 08 23;23(4):234-236. Epub 2019 May 23.

UPMC Eye Center, UPMC Children's Hospital of Pittsburgh, and University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania. Electronic address:

The availability of genetic sequencing has given physicians a new tool for diagnosis and treatment of disease, and "personalized medicine" has become an increasingly common term in general but not in pediatric ophthalmology. We present a case of a toddler who developed ataxia, opsoclonus, myoclonus, and developmental regression following anesthesia for a common otolaryngology procedure. The child was found to have a variant in the MT-ND6 gene (m.14484T>C), most commonly associated with Leber hereditary optic neuropathy, despite a phenotype more closely resembling Leigh syndrome. The incongruence of phenotype and genotype prompted whole exome sequencing, which identified an unexpected intronic missense mutation in RB1 (1960+5G>A), with a 90% penetrance for retinoblastoma. Limited evaluation of the posterior pole in clinic did not identify any lesions, and the risks and benefits of examination under anesthesia were discussed among neurology, ophthalmology, and anesthesiology. We report the outcome of these discussions. The value and risks of personalized medicine are discussed.
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http://dx.doi.org/10.1016/j.jaapos.2019.03.003DOI Listing
August 2019

An update of ophthalmic management in craniosynostosis.

J AAPOS 2019 04 27;23(2):66-76. Epub 2019 Mar 27.

Wills Eye Institute, Philadelphia, Pennsylvania. Electronic address:

Craniosynostosis has a varied clinical spectrum, ranging from isolated single suture involvement to multisutural fusions. Syndromic and nonsyndromic patients require orchestrated and multidisciplinary care from birth to adulthood. Advances in our understanding of craniosynostosis over the last quarter-century have resulted in more systematic management of the problems associated with the syndromic and nonsyndromic forms of this condition. This review provides an update on the genetic basis of, management of strabismus and oculoplastic manifestations in, and visual surveillance of patients with craniosynostosis.
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http://dx.doi.org/10.1016/j.jaapos.2018.10.016DOI Listing
April 2019

The Incidence of Chiari Malformations in Patients with Isolated Sagittal Synostosis.

Plast Reconstr Surg Glob Open 2019 Feb 12;7(2):e2090. Epub 2019 Feb 12.

Department of Ophthalmology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.

Background: We report the incidence of Chiari malformation I (CMI) in a cohort of 377 patients with isolated sagittal synostosis (ISS), which is to the best of our knowledge the largest such series reported to date.

Methods: A retrospective review of patients seen at a single institution from 2007 to 2017 was completed. ISS, Chiari malformations (CMI and CMII) and hydrocephalus were diagnosed by a senior neuroradiologist (G.Z.). Patients who met the inclusion criteria were divided into early (group A) and late (group B) presenting groups, as well as operated (group I) and unoperated (group II) groups. The patients were further subdivided into group AI (early operated), group AII (early unoperated), group BI (late operated), and group BII (late unoperated). Once identified, patient notes were examined for the following data sets: date of birth, age of presentation, age at last follow-up, other systemic conditions as well as molecular testing results. Surgical interventions, ophthalmological, and other relevant data were recorded. Statistical analysis was run in the form of a chi-square test to identify a significant difference between each subgroup. A literature review of the incidence of Chiari malformations in patients with ISS was conducted.

Results: Three hundred seventy-seven patients constitute the study's total cohort (272 were males and 105 females). This cohort was divided into patients who underwent surgical repair of ISS (group 1: n = 200), and patients who did not (group 2: n = 177). The entire cohort was also divided into early (group A: n = 161) and late (group B: n = 216) presenting craniosynostosis. In the total cohort, 22/377 (5.8%) patients with CMI were identified. CMI was found in 14/200 (7.0%) patients in group I, and 8/177 (4.5%) patients in group II. CMI was found in 2/161 (1%) patients in group A, and 20/216 (9.2%) patients in group B. The incidence of CMI in group AI (early operated) was 2/151 (1.3%), in group AII (early unoperated) was 0/10, in group BI (late operated) was 11/49 (21%), and in group BII (late unoperated) was 9/167 (5.4%). Chi-square analysis revealed a significant difference between the incidence of CMI in the early-presenting (group A) and late-presenting (group B) groups ( = 0.001) and between the late-presenting operated (BI) and late-presenting unoperated (BII) groups ( = 0.001). The incidence of hydrocephalus was 1.6% (6/377) in the total cohort. However, all patients diagnosed with hydrocephalus came from group II (no surgical ISS correction). The incidence of hydrocephalus in group II was 3.3% (6/177). The incidence of hydrocephalus in group BII (late unoperated ISS) was 3.0% (5/167). The incidence of hydrocephalus in group AII (early unoperated ISS) was 9.0% (1/11).

Conclusions: We noted the highest incidence of CMI-21%-in group BI (late-presenting operated). We noted hydrocephalus in group II (nonoperated), with the highest incidence of hydrocephalus found in the group BII (late-presenting unoperated) subgroup. We therefore recommend patients with ISS receive funduscopic examination to screen for raised intracranial pressure (ICP) associated with CMI and hydrocephalus, especially patients with late-presenting ISS.
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http://dx.doi.org/10.1097/GOX.0000000000002090DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416108PMC
February 2019