title: A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy.
abstract: The RDS-peripherin gene encodes a photoreceptor-specific protein that is localized in the outer segment disc membranes of both rods and cones. We screened a Spanish family with central areolar choroidal dystrophy for mutations in candidate genes. A base substitution was identified in the RDS-peripherin gene of one patient and DNA sequencing revealed a C-to-T transition in codon 172, arginine being substituted by tryptophan. The mutation was also detected in two asymptomatic family members who showed irregular pigmentation in the retinal pigment epithelium (RPE). The phenotype is similar to other macular dystrophies caused by mutation in the RDS-peripherin gene.
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D015862:Choroid Diseases / Q000150:complications*; D003062:Codon; D004247:DNA / Q000032:analysis; D005136:Eye Proteins / Q000235:genetics*; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins; D008875:Middle Aged; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins; D009479:Neuropeptides / Q000235:genetics; D010375:Pedigree; D064531:Peripherins; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012162:Retinal Degeneration / Q000235:genetics*; D013030:Spain
chemical_list: D003062:Codon; D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; D009479:Neuropeptides; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; D004247:DNA