PURPOSE To elucidate the gene defect in a pedigree of cats segregating for autosomal dominant rod-cone dysplasia (Rdy), a retinopathy characterized extensively from a clinical perspective. Disease expression in Rdy cats is comparable to that in young patients with congenital blindness (Leber congenital amaurosis [LCA] or retinitis pigmentosa [RP]). METHODS A pedigree segregating for Rdy was g...

Serum copper, ceruloplasmin, and urinary copper were estimated in 13 normal subjects and 24 patients with primary retinitis pigmentosa. The serum copper levels in patients appeared to be higher and ceruloplasmin levels lower than in the normal subjects. The patients seem to fall into 2 categories with regard to urinary copper. About a third of them excreted 2-4 times more copper in the urine, w...

We have used a color matching technique to estimate the optical density of the foveal cone photopigments in a group of patients with retinitis pigmentosa. We find that foveal cone optical density is reduced in patients with retinitis pigmentosa. This reduction of density can occur early in the disease process and is found in patients with minimal visual field loss or 20/20 visual acuity. Foveal...

PURPOSE To determine whether pathogenic mutations exist in the ELOVL4 gene in patients with inherited retinal degenerations other than Stargardt-like macular dystrophy or other hereditary macular degenerations. METHODS All six exons comprising the open reading frame of the ELOVL4 gene were evaluated by single-strand conformation analysis, direct nucleotide sequencing, or both methods. RESUL...

PURPOSE To evaluate the role of TIMP-1 in inherited retinal degeneration. METHODS The genomic structure of the TIMP-1 gene was established and male patients with x-linked retinitis pigmentosa 2 from five families were screened for sequence alterations by direct sequencing in all exons, exon-intron boundaries, and the 5' upstream region of the gene. RESULTS TIMP-1 appears to be expressed in ...

IMPORTANCE This research is the single largest NR2E3 genotype-phenotype correlation study performed to date in autosomal dominant Retinitis Pigmentosa. OBJECTIVE The aim of this study is to analyse the frequency of the p.Gly56Arg mutation in NR2E3 for the largest cohort of autosomal dominant Retinitis Pigmentosa patients to date and its associated phenotype. PATIENTS AND METHODS A cohort of...

AN adult onset novel disorder of peroxisomal function is described, characterised by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism. The defect results in accumulation of pristanic acid, and the bile acid intermediates, dihydroxycholestanoic and trihydroxycholestanoic acid, and is due to a deficiency of alpha-methyl...

In a patient with juvenile nephronophthisis, sector retinitis pigmentosa was found as an extrarenal manifestation, establishing a hitherto undescribed variety of retinal degeneration occurring in this disorder. The retinal function in this case was identical with that in the classic type of sector retinitis pigmentosa, namely, subnormal ERG amplitudes but normal cone and rod implicit times. The...

BACKGROUND Senior-Loken syndrome is a rare disease that combines familial juvenile nephronophthisis with retinitis pigmentosa. We describe the clinical features of a Japanese patient with Senior-Loken syndrome emphasizing the importance of the ophthalmic findings in determining a correct diagnosis. CASE A 6-year-old Japanese girl had anemia, mental retardation, and poor vision. OBSERVATIONS...