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Article

Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Oct 1991

Fishman G A, Stone E M, Gilbert L D, Kenna P, Sheffield V C

Abstract excerpt

Eight members of a family with autosomal dominant retinitis pigmentosa were found to have a cytosine-to-guanine (C-to-G) transversion mutation in the second nucleotide of codon 58 of the rhodopsin gene, causing a substitution of the amino acid arginine for threonine. Five of these individuals were examined clinically. There was a distinct phenotypic expression of the gene defect within this family that included a...

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Identifiers

PMID: 1929926
DOI: 10.1001/archopht.1991.01080100067044

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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