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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adult
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Aged
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Amino Acid Sequence
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Animals
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Base Sequence
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Codon / genetics
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DNA / genetics
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DNA / isolation & purification
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Exons
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Eye Proteins / genetics*
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Female
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Fluorescein Angiography
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Genes, Dominant
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Genetic Linkage
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Humans
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Intermediate Filament Proteins / chemistry
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Intermediate Filament Proteins / genetics
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Male
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Membrane Glycoproteins*
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Mice
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Mice, Mutant Strains
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Middle Aged
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Molecular Sequence Data
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Nerve Tissue Proteins*
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Neuropeptides / genetics
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Oligodeoxyribonucleotides
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Pedigree
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Peripherins
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Point Mutation*
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Protein Structure, Secondary
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Retinal Degeneration / diagnosis
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Retinal Degeneration / genetics*
Substances
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Codon
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Eye Proteins
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Intermediate Filament Proteins
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Membrane Glycoproteins
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Nerve Tissue Proteins
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Neuropeptides
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Oligodeoxyribonucleotides
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PRPH protein, human
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PRPH2 protein, human
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Peripherins
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Prph2 protein, mouse
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DNA