Semantic Scholar uses AI to extract papers important to this topic.
A novel heteroplasmic mitochondrial DNA (mtDNA) microdeletion affecting the cytochrome b gene (MT‐CYB) was identified in an… Expand PURPOSE
To describe a family with an 18-year-old woman with fundus albipunctatus and compound heterozygous mutations in RPE65… Expand AbstractX-linked dilated cardiomyopathy (XLCM) was first described in 1987 and associated with dystrophin gene (DMD) mutations a… Expand Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant, late-onset, slowly progressive disorder, primarily characterized… Expand PURPOSE
To compare the clinical findings of the various forms of stationary night blindness caused by mutations in identified… Expand PURPOSE
To analyze the RDH5 gene in patients with fundus albipunctatus with and without cone dystrophy and to determine whether… Expand The metabolic pathways that produce 11-cis retinal are important for vision because this retinoid is the chromophore residing in… Expand PURPOSE
Patients with fundus albipunctatus uniformly experience difficulty with vision at night. Their retinas are spotted with… Expand PURPOSE
To compare the multifocal electroretinogram (ERG) system to conventional ganzfeld and focal ERGs obtained from patients… Expand We describe five unrelated patients in whom the typical signs of fundus albipunctatus were accompanied by colour vision defects… Expand