PURPOSE To identify and functionally characterize the mutation responsible for autosomal dominant retinitis pigmentosa (adRP) in a large, six-generation French family. METHODS Twenty individuals from this family participated in the genetic investigation. Six affected and 14 unaffected individuals from three-generations were available for linkage analysis using microsatellite markers flanking ...

PURPOSE NEUROD1 is a tissue-specific basic helix loop helix (bHLH) protein involved in the development and maintenance of the endocrine pancreas and neuronal elements. Loss of NEUROD1 causes ataxia, cerebellar hypoplasia, sensorineural deafness, and severe retinal dystrophy in mice. Heterozygous loss-of-function mutations in NEUROD1 have previously been described as a cause of maturity-onset di...

Patients with 'visual snow' report continuous tiny dots in the entire visual field similar to the noise of an analogue television. As they frequently have migraine as a comorbidity with ophthalmological, neurological and radiological studies being normal, they are offered various diagnoses, including persistent migraine aura, post-hallucinogen flashback, or psychogenic disorder. Our aim was to ...

PURPOSE To report, for the first time, that X-linked incomplete congenital stationary night blindness (CSNB2A) and Åland island eye disease (AIED) phenotypes coexist in a molecularly confirmed pedigree and to present novel phenotypic characteristics of calcium channel alpha-1F subunit gene (CACNA1F)-related disease. METHODS Two affected subjects (the proband and his maternal grandfather) and ...

Dear Editor, Bietti crystalline retinal dystrophy (BCD) is an autoso-mal recessive retinal dystrophy first described in 1937. It is characterized by numerous yellow-white crystals on the retina, associated with retinal pigment epithelium (RPE) atrophy and choroidal sclerosis [1]. Crystals and complex lipid inclusions are found in choroidal fibroblasts, cornea, conjunctiva, and circulating lymph...

Cystic Fibrosis (CF), characterized by abnormal transport of chloride and sodium ion across the epithelium, leads to thick, viscous secretions (1). The hallmark signs and symptoms of cystic fibrosis are salty tasting skin, poor growth and poor weight gain despite a normal food intake, accumulation of thick, sticky mucus, frequent chest infections, and coughing or shortness of breath. Males can ...

Purpose Microarray and RNA sequencing studies in the chick model of early optically induced refractive error have implicated thousands of genes, many of which have also been linked to ocular pathologies in humans, including age-related macular degeneration (AMD), choroidal neovascularization, glaucoma, and cataract. These findings highlight the potential relevance of the chick model to understa...

Purpose: To present electroretinographic (ERG) findings in a patient with retinal dysfunction with supernormal scotopic ERG, and to analyze rod and cone PIII components and rod inner nuclear layer (derived PII) responses. Patient: A Japanese 11-year-old girl complained of poor visual acuity. There was no parental consanguinity in her family. The corrected visual acuity was 0.7 in both eyes. No ...

The appaloosa coat spotting pattern in horses is caused by a single incomplete dominant gene (LP). Homozygosity for LP (LP/LP) is directly associated with congenital stationary night blindness (CSNB) in Appaloosa horses. LP maps to a 6cM region on ECA1. We investigated the relative expression of two functional candidate genes located in this LP candidate region (TRPM1 and OCA2), as well as thre...