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.

Bilateral nonarteritic ischemic optic neuropathy and retinal ischemia in a pediatric dialysis patient.

A nearly 3-year-old boy on nightly dialysis presented emergently with sudden loss of vision. On examination, his visual acuity was light perception in the right eye and no light perception in the left eye. There was bilateral optic disk edema, diffuse pallor of posterior poles, and a cherry red spot in the left fundus.

Short Term Effect of Pre-Operative Anti-VEGF on Angiogenic and Fibrotic Profile of Fibrovascular Membranes of Proliferative Diabetic Retinopathy.

Purpose: Adjuvant, pre-operative intravitreal anti-vascular endothelial growth factor (anti-VEGF) injections have been used to reduce peri-operative bleeding in eyes undergoing pars-plana vitrectomy for complications of proliferative diabetic retinopathy (PDR). To address the concern over their potential off-target effects of progressive fibrous contraction, we sought to dissect the transcriptional changes in the surgically extracted fibrovascular membranes (FVMs).

Methods: We analyzed surgically extracted FVMs from 10 eyes: 4 eyes pretreated with intravitreal bevacizumab (IVB) and 6 untreated eyes.

Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16.

Pathogenic heterozygous variants in DHX16 have been recently identified in association with a variety of clinical features, including neuromuscular disease, sensorineural hearing loss, ocular anomalies, and other phenotypes. All DHX16 disease-causing variants previously reported in affected individuals are missense in nature, nearly all of which were found to be de novo. Here we report on a patient with neuromuscular disease, hearing loss, retinal degeneration, and previously unreported phenotypic features including mitochondrial deficiency and primary ovarian insufficiency, in whom a novel de novo likely pathogenic variant in DHX16 NM_003587.

Ocular ischemic syndrome in neurofibromatosis type 1 treated with corticosteroids.

Neurofibromatosis type 1 (NF-1) is an autosomal dominant condition characterized by café-au-lait spots, neurofibromas, and multisystem involvement, including vasculopathy that may lead to ischemic or hemorrhagic events. Cases of vascular occlusions involving the retinal or ophthalmic circulation have also been described. The majority of cases with reported outcomes describe poor visual acuity following resolution.

Postnatal Growth Trajectories and Neurodevelopmental Outcomes Following Bevacizumab Treatment for Retinopathy of Prematurity.

Purpose: To investigate the postnatal growth and neurodevelopment of infants with retinopathy of prematurity (ROP) treated with intravitreal bevacizumab (IVB).

Patients And Methods: This was a retrospective comparative study. A total of 262 infants were divided among three study groups: 22 treated with intravitreal bevacizumab, 55 treated with laser, and 185 with ROP that resolved without treatment.

Long-term retinal vasculature abnormalities following intravitreal bevacizumab for retinopathy of prematurity.

Purpose: To report long-term fluorescein angiography (FA) findings in consecutive patients with type 1 retinopathy of prematurity (ROP) treated with intravitreal bevacizumab (IVB), whose ROP seemed to have resolved clinically.

Methods: Data were retrospectively collected for all patients with IVB-treated type 1 ROP who underwent an exam under anesthesia (EUA) and FA at 60 weeks post-gestational age (PGA) or older at a tertiary medical center between 2011 and 2020. FA results were reviewed for pathological vascular findings.

NOVEL PRPH2/RDS MUTATION IDENTIFIED IN A FAMILY WITH VARYING CLINICAL MANIFESTATIONS: A CASE REPORT.

Purpose: To present the case of a family with a novel PRPH2/RDS mutation.

Methods: A case report of a 44-year-old woman and her immediate family, including the father and a sister who shared her PRPH2/RDS mutation.

Results: A 44-year-old woman presented with examination findings consistent with a butterfly-type pattern dystrophy.

Traumatic Retinal Detachment in Patients with Self-Injurious Behavior: An International Multicenter Study.

Purpose: To describe the clinical characteristics, surgical outcomes, and management recommendations in patients with traumatic rhegmatogenous retinal detachment (RRD) resulting from self-injurious behavior (SIB).

Design: International, multicenter, retrospective, interventional case series.

Participants: Patients with SIB from 23 centers with RRD in at least 1 eye.

Enhanced Depth Imaging Optical Coherence Tomography of Posterior Globe Rupture.

Occult globe rupture is a rare but potentially devastating result of eye trauma. The authors present a case of a woman who sustained blunt trauma to the right eye resulting in a peripapillary circumferential posterior globe rupture. Clinically, the eye maintained good vision and normal intraocular pressure with a clear media, though subretinal fluid and retinal hemorrhage were present overlying the scleral defect.

Atypical Perinuclear Anti-Neutrophil Cytoplasmic Antibodies in Ocular Inflammatory Diseases.

: To characterize the clinical features of patients with ocular inflammatory diseases (OID) who tested positive for atypical perinuclear anti-neutrophil cytoplasmic antibodies (P-ANCA). : Retrospective case series of patients with OID seen at the Massachusetts Eye Research and Surgery Institute (MERSI) from April 2014 to April 2016. : 813 patients were tested for ANCA with 34 patients (4%) being positive for atypical P-ANCA.

Perfluorocarbon liquid-assisted intraocular foreign body removal.

We describe the benefits of perfluoro-N-octane (PFO), a perfluorocarbon liquid, in the removal of nonmagnetic intraocular foreign bodies (IOFBs) from the macula and posterior segment. Two consecutive cases of posterior segment IOFB were reviewed. An 18-year-old male presented to the emergency room after a motor vehicle accident with a zone 1 open globe injury and large glass IOFB in the left eye.

Postoperative Endophthalmitis: A Review of Risk Factors, Prophylaxis, Incidence, Microbiology, Treatment, and Outcomes.

Postoperative endophthalmitis is one of the most feared complications of intraocular surgery. The most common types of intraocular surgeries performed worldwide are cataract extraction, glaucoma drainage implants/trabeculectomy, and pars plana vitrectomy. This review will focus on the clinical features, risk factors, prophylaxis, and treatment of endophthalmitis in these three main intraocular surgeries.

Structural Changes Associated with Delayed Dark Adaptation in Age-Related Macular Degeneration.

Purpose: To examine the relationship between dark adaptation (DA) and optical coherence tomography (OCT)-based macular morphology in age-related macular degeneration (AMD).

Design: Prospective, cross-sectional study.

Participants: Patients with AMD and a comparison group (>50 years) without any vitreoretinal disease.

ACUTE POSTERIOR MULTIFOCAL PLACOID PIGMENT EPITHELIOPATHY ON OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY.

Purpose: To investigate choroidal involvement in acute posterior multifocal placoid pigment epitheliopathy (APMPPE).

Methods: A retrospective observational case series using multimodal imaging including optical coherence tomography (OCT) angiography.

Results: Five patients with APMPPE were included.

Retinal Disease in Marfan Syndrome: From the Marfan Eye Consortium of Chicago.

Background And Objective: To study the prevalence of peripheral retinal disease in patients with Marfan Syndrome (MFS).

Patients And Methods: In this observational, cross-sectional case series, patients with MFS were recruited by the Marfan Eye Consortium of Chicago during the National Marfan Foundation's annual conference. Patients underwent a fully dilated exam by vitreoretinal specialists in addition to ultra-widefield fundus photography using a scanning laser ophthalmoscope (Optos 200Tx; Optos PLC, Dunfermline, Scotland, United Kingdom).

Enhanced depth imaging OCT (EDI-OCT) findings in acute phase of sympathetic ophthalmia.

The purpose of this study was to describe the EDI-OCT findings in an acute phase of sympathetic ophthalmia (SO). A 24-year-old gentleman was referred to clinic complaining of progressive blurry vision of his right eye within last 3 days. He had a history of repaired corneoscleral laceration in his left eye followed by lensectomy and anterior vitrectomy approximately 1 month before his recent right eye discomfort.

Spatial differences in corneal electroretinogram potentials measured in rat with a contact lens electrode array.

Purpose: It has been known for several decades that the magnitude of the corneal electroretinogram (ERG) varies with position on the eye surface, especially in the presence of focal or asymmetric stimuli or retinal lesions. However, this phenomenon has not been well-characterized using simultaneous measurements at multiple locations on the cornea. This work provides the first characterization of spatial differences in the ERG across the rat cornea.

Chronic delivery of low-level exogenous current preserves retinal function in pigmented P23H rat.

Diffuse electrical currents delivered to the eye were investigated in a rat model of retinitis pigmentosa for potentially therapeutic effects. Low-level currents were passed between electrodes placed on the cornea and in the mouth during 30-min sessions two times per week from 4 to 16 weeks of age. Single-flash electroretinograms (ERG) were recorded and analyzed for amplitude and measures of sensitivity, and basic histology was performed.

Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene.

Human autosomal recessive primary microcephaly (MCPH) is a rare genetic disorder in which affected individuals are born with reduced brain size. MCPH is genetically heterogeneous, with six loci and four genes reported to date. Mutations in the ASPM gene at the MCPH5 locus appear to be the most common cause of MCPH.