Diffuse loss of rod function in autosomal dominant retinitis pigmentosa with pro-347-leu mutation of rhodopsin.

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Article

Diffuse loss of rod function in autosomal dominant retinitis pigmentosa with pro-347-leu mutation of rhodopsin.

German journal of ophthalmology - 1 Jan 1992

Apfelstedt-Sylla E, Kunisch M, Horn M, Rüther K, Gal A, Zrenner E

Abstract excerpt

There is considerable variety among the clinical features of autosomal dominant retinitis pigmentosa (ADRP). This is probably at least in part due to genetic heterogeneity. Recently, various mutations of the rhodopsin gene have been detected in some ADRP families. We report on six patients from t...

Topics

Adult
Aged
DNA Mutational Analysis
Dark Adaptation
Electroretinography
Female
Fundus Oculi
Humans
Leucine
Male
Middle Aged
Mutation
Pedigree
Photoreceptor Cells
Proline
Retinal Diseases
Retinitis Pigmentosa
Rhodopsin

Source

Open in PubMed

Identifiers

PMID: 1477634

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1477634-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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