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Article

Retinitis pigmentosa and related disorders: phenotypes of rhodopsin and peripherin/RDS mutations.

American journal of medical genetics - 1 Oct 1994

Shastry B S

Abstract excerpt

Retinitis pigmentosa comprises a group of clinically variable and genetically heterogeneous inherited disorders of the retina. It is estimated that approximately 1.5 million people throughout the world are affected by this disease. It is a slowly progressive disorder and causes loss of night vision and peripheral visual field in adolescence. It can be inherited through an autosomal dominant, recessive, or...

Topics

Eye Proteins
Humans
Intermediate Filament Proteins
Membrane Glycoproteins
Mutation
Nerve Tissue Proteins
Peripherins
Retina
Retinitis Pigmentosa
Rhodopsin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 7747760
DOI: 10.1002/ajmg.1320520413

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7747760-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Retinitis pigmentosa and related disorders: phenotypes of rhodopsin and peripherin/RDS mutations.PMID 7747760Read ↗

The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene.Semantic proximity Read ↗

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Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.Semantic proximity Read ↗

The role of the peripherin/RDS gene in retinal dystrophies.Semantic proximity Read ↗

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Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

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