Pathognomonic macular ripples are revealed by polarized infrared retinal imaging.

A pathognomonic macular ripple sign has been reported with scanning laser ophthalmoscopy images in patients with foveal hypoplasia, though the optical basis of this sign is presently unknown. Here we present a case series of seven individuals with foveal hypoplasia (based on spectral domain optical coherence tomography). Each patient underwent infrared scanning laser ophthalmoscopy retinal imaging in both eyes, acquired with and without a polarization filter and assessment for a ripple-like effect in the fovea.

CRB1 maculopathy presenting as fenestrated sheen macular dystrophy with 15-year follow-up.

Introduction: We present two patients, the proband and the affected sibling, with biallelic CRB1 mutations leading to a macular dystrophy.

Case Presentation: We present two patients, the proband and the affected sibling, with biallelic CRB1 mutations leading to a macular dystrophy. With 15 years of follow-up for the proband, we illustrate the natural history of CRB1 maculopathy based on clinical examination, multimodal imaging, and electrophysiology.

Integration of genomics and transcriptomics predicts diabetic retinopathy susceptibility genes.

We determined differential gene expression in response to high glucose in lymphoblastoid cell lines derived from matched individuals with type 1 diabetes with and without retinopathy. Those genes exhibiting the largest difference in glucose response were assessed for association with diabetic retinopathy in a genome-wide association study meta-analysis. Expression quantitative trait loci (eQTLs) of the glucose response genes were tested for association with diabetic retinopathy.

Simplex Crumbs Homologue 1 Maculopathy Masquerading as Juvenile X-Linked Retinoschisis in Male Patients.

We report two unrelated male patients presenting at a young age with decreased vision from a macular dystrophy due to biallelic CRB1 mutations. In addition to a previously-described pathogenic variant, Ile167_Gly169del, two new pathogenic missense variants in CRB1, Thr745Met, and Cys948Tyr are reported here. While CRB1 mutations have been more commonly described in retinitis pigmentosa (RP) and Leber's congenital amaurosis (LCA), we demonstrate that mutations in CRB1 can cause a maculopathy whose initial features can resemble juvenile X-linked retinoschisis (JXLRS).

Linezolid-induced photoreceptor dysfunction masquerading as autoimmune retinopathy.

Purpose: To report a case of linezolid-induced reversible retinopathy.

Methods: Case report with literature review.

Results: Clinical examination and imaging are presented over a 7-month interval, from initial presentation to subsequent follow-up (6 months after discontinuation of linezolid).

Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control.

To identify genetic variants associated with diabetic retinopathy (DR), we performed a large multiethnic genome-wide association study. Discovery included eight European cohorts ( = 3,246) and seven African American cohorts ( = 2,611). We meta-analyzed across cohorts using inverse-variance weighting, with and without liability threshold modeling of glycemic control and duration of diabetes.

A genome-wide association study suggests new evidence for an association of the NADPH Oxidase 4 (NOX4) gene with severe diabetic retinopathy in type 2 diabetes.

Purpose: Diabetic retinopathy is the most common eye complication in patients with diabetes. The purpose of this study is to identify genetic factors contributing to severe diabetic retinopathy.

Methods: A genome-wide association approach was applied.

Mutations in MERTK are not associated with age-related macular degeneration.

Purpose: To assess whether mutations in Mer tyrosine kinase (MERTK) are associated with age-related macular degeneration (AMD).

Methods: An association study using whole-genome sequencing was performed to determine whether rare variants in MERTK are associated with AMD. The data set included 4787 propensity score-matched case-control samples: 2394 AMD cases and 2393 controls.

A novel MERTK mutation causing retinitis pigmentosa.

Purpose: Retinitis pigmentosa (RP) is a genetically heterogeneous inherited retinal dystrophy. To date, over 80 genes have been implicated in RP. However, the disease demonstrates significant locus and allelic heterogeneity not entirely captured by current testing platforms.

MACULAR DETACHMENT ASSOCIATED WITH ANOMALOUS OPTIC NERVES AND DURAL ECTASIA IN 49, XXXXY SYNDROME.

Purpose: To present a case of a patient with XXXXY syndrome, anomalous optic nerves, and dural ectasia in conjunction with macular detachment.

Methods: Case report.

Results: A 3-year-old boy with XXXXY chromosomal abnormality presented with bilateral maculopathy.

Lymphoblastoid Cell Lines as a Tool to Study Inter-Individual Differences in the Response to Glucose.

Background: White blood cells have been shown in animal studies to play a central role in the pathogenesis of diabetic retinopathy. Lymphoblastoid cells are immortalized EBV-transformed primary B-cell leukocytes that have been extensively used as a model for conditions in which white blood cells play a primary role. The purpose of this study was to investigate whether lymphoblastoid cell lines, by retaining many of the key features of primary leukocytes, can be induced with glucose to demonstrate relevant biological responses to those found in diabetic retinopathy.

PERIPHERAL RETINOPATHY ASSOCIATED WITH APLASTIC ANEMIA.

Purpose: To report a case of severe, bilateral, rapidly progressing peripheral retinal nonperfusion associated with underlying aplastic anemia.

Methods: An interventional case report.

Results: A 4-year-old girl presented with decreased visual acuity.

BATTEN DISEASE CAUSED BY A NOVEL MUTATION IN THE PPT1 GENE.

Purpose: To report a case of Batten disease due to a previously unreported mutation in PPT1.

Methods: A 9-year-old girl presented with classic clinical findings of Batten Disease.

Results: Genetic testing for the mutations in the most common Batten disease gene, CLN3, was negative.

Role of FAM18B in diabetic retinopathy.

Purpose: Genome-wide association studies have suggested an association between a previously uncharacterized gene, FAM18B, and diabetic retinopathy. This study explores the role of FAM18B in diabetic retinopathy. An improved understanding of FAM18B could yield important insights into the pathogenesis of this sight-threatening complication of diabetes mellitus.

Genetic variation is the major determinant of individual differences in leukocyte endothelial adhesion.

Objective: To determine the genetic contribution to leukocyte endothelial adhesion.

Methods: Leukocyte endothelial adhesion was assessed through a novel cell-based assay using human lymphoblastoid cell lines. A high-throughput screening method was developed to evaluate the inter-individual variability in leukocyte endothelial adhesion using lymphoblastoid cell lines derived from different donors.

Cytochrome P450 2C epoxygenases mediate photochemical stress-induced death of photoreceptors.

Degenerative loss of photoreceptors occurs in inherited and age-related retinal degenerative diseases. A chemical screen facilitates development of new testing routes for neuroprotection and mechanistic investigation. Herein, we conducted a mouse-derived photoreceptor (661W cell)-based high throughput screen of the Food and Drug Administration-approved Prestwick drug library to identify putative cytoprotective compounds against light-induced, synthetic visual chromophore-precipitated cell death.

Validity of self-report in type 1 diabetic subjects for laser treatment of retinopathy.

Purpose: This study sought to determine the validity of self-report of prior panretinal photocoagulation (PRP) and focal photocoagulation (FP) compared with fundus photography.

Design: Prospective cohort study.

Participants: One thousand three hundred sixty-three type 1 diabetic subjects from the Epidemiology of Diabetes Interventions and Complications (EDIC) study, a subset of the 1441 subjects originally enrolled in the multicenter Diabetes Control and Complications Trial.

Fas ligand-Fas signaling participates in light-induced apoptotic death in photoreceptor cells.

Purpose: We investigated the function of Fas in photoreceptors.

Methods: Postmortem human eyes and mouse-derived photoreceptor cells (661W) were examined for Fas expression by in situ hybridization and immunofluorescence. 661W cells were treated with FasL or Fas agonistic antibody, or exposed to light with/without pharmacological manipulation of Fas signaling, followed by apoptosis detection by TUNEL, immunofluorescence and fluorescence activated cell scanning (FACS).