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Article

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

Ophthalmology - 1 Sept 2005

Michaelides Michel, Holder Graham E, Bradshaw Keith, Hunt David M, Moore Anthony T

Abstract excerpt

PURPOSE: To determine the underlying molecular genetic basis of a retinal dystrophy identified in a 5-generation family, and to examine the phenotype and degree of intrafamilial variability. DESIGN: Family genetic study. PARTICIPANTS: Nine affected individuals from a nonconsanguineous British family. METHODS: Ophthalmologic examination, color vision testing, fundus photography, autofluorescence imaging, and...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16019073
DOI: 10.1016/j.ophtha.2005.04.004

Genes

ERG

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene.PMID 16019073Read ↗

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