Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity.

Introduction: Due to the recent advent of gene-targeted retinal therapies, the clinical value of high-yield genetic testing for inherited retinal dystrophies (IRDs) has increased considerably. However, diagnostic yield is limited by the reported patient populations in allele frequency databases. This study aimed to determine the effect of race and ethnicity on diagnostic yield in IRDs.

Ophthalmological manifestations in a diverse pediatric population with Type I and Type II Stickler syndrome.

Objective: To characterize and compare our cohorts of pediatric patients with type I and type II Sticker syndrome, with a focus on ophthalmological features.

Design: Retrospective cohort study.

Subjects: Twenty-six patients (22 families) with clinical and genetic diagnoses of types I or II Stickler syndrome.

Evaluation of parameters for early detection of pediatric keratoconus.

Background: Keratoconus in children is often more severe and rapidly progressive compared to adults. While Scheimpflug imaging (Pentacam) improves screening, there are no established pediatric guidelines. Due to challenges in diagnosis, we aimed to correlate clinical factors with abnormal imaging results to aid in the development of screening protocols.

Keratin 8/18a.1 Expression Influences Embryonic Neural Crest Cell Dynamics and Contributes to Postnatal Corneal Regeneration in Zebrafish.

A complete understanding of neural crest cell mechanodynamics during ocular development will provide insight into postnatal neural crest cell contributions to ophthalmic abnormalities in adult tissues and inform regenerative strategies toward injury repair. Herein, single-cell RNA sequencing in zebrafish during early eye development revealed keratin intermediate filament genes and as additional factors expressed during anterior segment development. In situ hybridization and immunofluorescence microscopy confirmed and expression in the early neural plate border and migrating cranial neural crest cells.

A Case of Non-Syndromic Congenital Cataracts Caused by a Novel Variant in the C-Terminal DNA-Binding Domain-Case Report and Literature Review.

The gene encodes a transcription factor in which pathogenic variants have been associated with both isolated and syndromic congenital cataracts. We aim to review the variants in the C-terminal DNA-binding domain associated with non-syndromic congenital cataracts and describe a patient with a novel, disease-causing de novo missense variant. Published reports of C-terminal variants and their associated congenital cataracts and ophthalmic findings were reviewed.

Factors and outcomes associated with corneal edema and Haabs striae in primary congenital glaucoma.

Purpose: To identify specific factors and outcomes associated with corneal edema and Haabs striae in primary congenital glaucoma (PCG).

Methods: The medical records of patients with PCG from 2011 to 2023 with >3 months' follow-up were reviewed retrospectively. Preoperative details and final outcomes were compared between eyes with and without corneal findings.

Concurrent adjacent strabismus surgery with glaucoma drainage device placement in childhood glaucomas.

Background: Determine outcomes of concurrent strabismus surgery with placement of a glaucoma drainage device (GDD) in children.

Methods: Retrospective review of pediatric patients who underwent simultaneous lateral rectus (LR) muscle surgery with superotemporal GDD placement. Strabismus and GDD success were defined as residual horizontal misalignment < 10 prism diopter (PD) and intraocular pressure (IOP) < 21 mmHg, no visually devastating complications, and no additional IOP-lowering surgeries.

Outcomes of inferior oblique myectomy versus recession combined with lateral rectus recession in V-pattern exotropias.

Purpose: To compare outcomes of bilateral lateral rectus recession (BLRc) paired with either bilateral inferior oblique myectomy (BIOm) or bilateral inferior oblique recession (BIOc) to correct V-pattern exotropia.

Methods: The medical records of children (≤18 years) who underwent BLRc with BIOm or BIOc (10 mm) for V-pattern intermittent exotropia between December 2020 and May 2022 and who had at least 6 months' postoperative follow-up were reviewed. Outcomes included horizontal alignment, bilateral inferior oblique action, stereopsis, postoperative exotropia control score, and additional strabismus surgeries.

Corneal characteristics and OCT-angiography findings in pediatric glaucoma and glaucoma suspects.

Purpose: To analyze corneal biomechanics, specular microscopy, and optical coherence tomography-angiography findings in children with glaucoma.

Methods: Pediatric patients (<18 years of age) with glaucoma (n = 38), increased cup:disk ratio and normal intraocular pressure (IOP) glaucoma suspects (n = 36), and controls (n = 67) were prospectively enrolled. Patients underwent testing with Ocular Response Analyzer, CellChek Specular Microscope, and Heidelberg OCT-A.

Axenfeld-Rieger syndrome: A systematic review examining genetic, neurological, and neurovascular associations to inform screening.

Axenfeld-Rieger Syndrome (ARS) is comprised of a group of autosomal dominant disorders that are each characterized by anterior segment abnormalities of the eye. Mutations in the transcription factors or are the most well-studied genetic manifestations of this syndrome. Due to the rarity this syndrome, ARS-associated neurological manifestations have not been well characterized.

Ahmed to Baerveldt glaucoma drainage device exchange in pediatric patients.

Background: There is no consensus and few reports as to the surgical management of encapsulated Ahmed glaucoma drainage devices (GDD) which no longer control intraocular pressure (IOP), especially within the pediatric population. The purpose of this study was to report outcomes of exchanging the Ahmed GDD for a Baerveldt GDD in children with refractory glaucoma.

Methods: Retrospective review of children (< 18yrs) who underwent removal of Ahmed FP7 and placement of Baerveldt 350 (2016-2021) with ≥ 3-month follow-up.

Soft contact lens options in the management of pediatric aphakia - A quantitative and qualitative assessment.

Background: The main contact lens for pediatric aphakia has historically been a silicone elastomer lens (Silsoft SuperPlus). Due to supply chain disruption, many aphakic children required an alternative lens. We performed quantitative and qualitative comparisons between Silsoft SuperPlus and alternative aphakic soft contacts.

Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations.

Stickler Syndrome is typically characterized by ophthalmic manifestations including vitreous degeneration and axial lengthening that predispose to retinal detachment. Systemic findings consist of micrognathia, cleft palate, sensorineural hearing loss, and joint abnormalities. COL2A1 mutations are the most common, however, there is a lack of genotype-phenotype correlations.

Evaluation of Genetic Testing in a Cohort of Diverse Pediatric Patients in the United States with Congenital Cataracts.

The aim of this study was to evaluate the diagnostic yield from prior genetic testing in a 20-year cohort of pediatric patients with congenital cataracts. A retrospective review of patients with congenital cataracts who underwent genetic testing was completed from 2003-2022. The diagnostic yield of the test was determined by variant classification and inheritance pattern.

Ophthalmological Manifestations of Axenfeld-Rieger Syndrome: Current Perspectives.

Axenfeld-Rieger syndrome (ARS) is a rare congenital disease that is primarily characterized by ocular anterior segment anomalies but is also associated with craniofacial, dental, cardiac, and neurologic abnormalities. Over half of cases are linked with autosomal dominant mutations in either or , which reflects the molecular role of these genes in regulating neural crest cell contributions to the eye, face, and heart. Within the eye, ARS is classically defined as the combination of posterior embryotoxon with iris bridging strands (Axenfeld anomaly) and iris hypoplasia causing corectopia and pseudopolycoria (Rieger anomaly).

Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population.

The diagnostic yield of genetic testing for ocular/oculocutaneous albinism (OA/OCA) in a diverse pediatric population in the United States (U.S.) is unclear.

Zebrafish Model of Stickler Syndrome Suggests a Role for Col2a1a in the Neural Crest during Early Eye Development.

Most cases of Stickler syndrome are due to autosomal-dominant COL2A1 gene mutations leading to abnormal type II collagen. Ocular findings include axial eye lengthening with vitreal degeneration and early-onset glaucoma, which can result in vision loss. Although COL2A1 is a major player in cartilage and bone formation, its specific role in eye development remains elusive.

Posterior segment findings in Axenfeld-Rieger syndrome.

Axenfeld-Rieger syndrome (ARS) is characterized by posterior embryotoxon, Axenfeld anomaly (adherent iris strands to Schwalbe's line), and Rieger anomaly (iris hypoplasia with corectopia or pseudopolycoria). There are a few case reports of optic nerve abnormalities associated with 6p25 deletion syndrome, which is a multigenic region that contains the FOXC1 gene. We present 4 patients with ARS, including 1 with a FOXC1 nonsense mutation, who also have prominent congenital optic nerve abnormalities.

Clinical outcomes and visual prognostic factors in congenital aniridia.

Background: Evaluate outcomes and identify prognostic factors in congenital aniridia.

Methods: Retrospective interventional case series of patients with congenital aniridia treated between 2012-2020. Ocular examination and surgical details were collected.

Ologen augmentation of Ahmed valves in pediatric glaucomas.

Background: We previously showed that Ologen increased success and survival rates of Ahmed glaucoma devices in a small number of children. The current study analyzed the same surgical technique in an expanded cohort.

Methods: Retrospective interventional case series of children who underwent Ologen augmentation of Ahmed glaucoma device (OAGD) from 2018 to 2021 with ≥6 months' postoperative follow-up.

Characteristics and Outcomes of Glaucoma Associated With Congenital Ectropion Uvea.

Purpose: To determine the visual outcomes and effectiveness of glaucoma surgeries in congenital ectropion uvea.

Design: Retrospective interventional case series.

Methods: Surgeries and examination findings were collected on 11 eyes of 8 patients with congenital ectropion uvea at 2 academic sites from 2001 to 2021.