Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa.

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Article

Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa.

Investigative ophthalmology & visual science - 1 Aug 1995

Sandberg M A, Weigel-DiFranco C, Dryja T P, Berson E L

Abstract excerpt

PURPOSE: To determine whether severity of retinitis pigmentosa caused by dominant rhodopsin mutations depends on the location altered by the mutation. METHODS: Data from 128 patients (age range, 7 to 73 years), each with 1 to 27 rhodopsin mutations, were analyzed. To approximate normal distributi...

Topics

Adolescent
Adult
Aged
Amino Acid Sequence
Child
Codon
Dark Adaptation
Electroretinography
Humans
Middle Aged
Molecular Sequence Data
Mutation
Proline
Retina
Retinitis Pigmentosa
Rhodopsin
Structure-Activity Relationship
Visual Acuity

Source

Open in PubMed

Identifiers

PMID: 7635666

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7635666-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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