Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene.

Abstract	Butterfly-shaped pigment dystrophy of the fovea is an autosomal dominant eye disease characterized by a bilateral accumulation of yellowish or pigmented material at the level of the retinal pigment epithelium. It shares some clinical and histopathologic features with age related macular degeneration which is the most common cause of legal blindness in older patients. We screened affected patients from a three generation family with butterfly dystrophy for mutations in candidate genes. A base substitution was identified in the peripherin (RDS) gene and DNA sequencing revealed a G to A transition in codon 167 that substitutes aspartic acid for a highly conserved glycine. The mutation segregates with the disease phenotype (Zmax = 4, theta = 0) strongly suggesting that it causes the macular disease in this family.
Authors	B E Nichols, V C Sheffield, K Vandenburgh, A V Drack, A E Kimura, E M Stone
Journal	Nature genetics (Nat Genet) Vol. 3 Issue 3 Pg. 202-7 (Mar 1993) ISSN: 1061-4036 [Print] United States
PMID	8485574 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
Chemical References	Codon Eye Proteins Intermediate Filament Proteins Membrane Glycoproteins Nerve Tissue Proteins Neuropeptides Oligodeoxyribonucleotides PRPH protein, human PRPH2 protein, human Peripherins Prph2 protein, mouse DNA
Topics	Adult Aged Amino Acid Sequence Animals Base Sequence Codon (genetics) DNA (genetics, isolation & purification) Exons Eye Proteins (genetics) Female Fluorescein Angiography Genes, Dominant Genetic Linkage Humans Intermediate Filament Proteins (chemistry, genetics) Male Membrane Glycoproteins Mice Mice, Mutant Strains Middle Aged Molecular Sequence Data Nerve Tissue Proteins Neuropeptides (genetics) Oligodeoxyribonucleotides Pedigree Peripherins Point Mutation Protein Structure, Secondary Retinal Degeneration (diagnosis, genetics)

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