Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene.

doi:10.1001/archopht.1995.01100040067029

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Article

Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Apr 1995

Kim R Y, Dollfus H, Keen T J, Fitzke F W, Arden G B, Bhattacharya S S, Bird A C

Abstract excerpt

OBJECTIVE: To define the phenotype of a retinal dystrophy associated with a 4-base pair insertion at codon 140 of the peripherin/RDS gene. PATIENTS: Six affected members spanning two generations of a single family were examined. Five were studied in detail electrophysiologically and psychophysically. METHODS: Psychophysical testing included color vision testing, photopic and scotopic static threshold perimetry,...

Topics

Aged
Base Composition
Codon
Color Perception
Dark Adaptation
Electrooculography
Electroretinography
Eye Proteins
Female
Fluorescein Angiography
Fundus Oculi

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Intermediate Filament Proteins

Male

Membrane Glycoproteins

Middle Aged

Mutagenesis, Insertional

Nerve Tissue Proteins

Source

Open in PubMed

Identifiers

PMID: 7710395
DOI: 10.1001/archopht.1995.01100040067029

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7710395-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene.PMID 7710395Read ↗

Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin gene.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 ↗

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Ocular findings in patients with autosomal dominant retinitis pigmentosa and transversion mutation in codon 244 (Asn244Lys) of the peripherin/RDS gene.Semantic proximity Read ↗

Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS.Semantic proximity Read ↗

Autosomal Dominant Cone-Rod Dystrophy Associated With Mutations in Codon 244 (Asn244His) and Codon 184 (Tyr184Ser) of the Peripherin/RDS GeneSemantic proximity Read ↗

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