Pattern dystrophy and retinitis pigmentosa caused by a peripherin/RDS mutation.

doi:10.1097/00006982-199515010-00013

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

Pattern dystrophy and retinitis pigmentosa caused by a peripherin/RDS mutation.

Retina (Philadelphia, Pa.) - 1 Jan 1995

Richards S C, Creel D J

Abstract excerpt

PURPOSE: To describe the clinical and molecular genetic findings in members of a family with features of autosomal dominant retinitis pigmentosa (RP) and pattern dystrophy. METHODS: Members of a four-generation family underwent ophthalmoscopic examination, electrophysiologic testing, and screening of blood samples for rhodopsin and peripherin/RDS mutations. RESULTS: Three members of the family had clinical...

Topics

Adult
Aged
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 6
Eye Proteins
Humans
Intermediate Filament Proteins
Male
Membrane Glycoproteins
Middle Aged
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nerve Tissue Proteins

Neuropeptides

Pedigree

Peripherins

Proline

Retina

Source

Open in PubMed

Identifiers

PMID: 7754251
DOI: 10.1097/00006982-199515010-00013

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7754251-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pattern dystrophy and retinitis pigmentosa caused by a peripherin/RDS mutation.PMID 7754251Read ↗

A novel RDS/peripherin gene mutation associated with diverse macular phenotypes.Semantic proximity Read ↗

Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina.Semantic proximity Read ↗

Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

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

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

A novel complex mutation event in the peripherin/RDS gene in a family with retinal pattern dystrophy.Semantic proximity Read ↗

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

Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene.Semantic proximity Read ↗

[Retinitis pigmentosa, pattern dystrophy and fundus flavimaculatus not related to mutations in rhodopsine, peripherin/RDS and ROM-1 genes].Semantic proximity Read ↗

A novel peripherin/RDS mutation resulting in a retinal dystrophy with phenotypic variation.Semantic proximity Read ↗

Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutations.Semantic proximity Read ↗

A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.