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Article

Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina.

American journal of ophthalmology - 1 Nov 2001

Sears J E, Aaberg T A, Daiger S P, Moshfeghi D M

Abstract excerpt

PURPOSE: To report the phenotype and genotype of a splice site mutation at intron 2 of the peripherin/RDS gene in four half-siblings with pattern dystrophy of the retina. DESIGN: Experimental study. METHODS: In four siblings with a common mother and three separate fathers, complete ophthalmic examination, pedigree, electrophysiologic testing, and fluorescein angiography studies were obtained. Genomic DNA from...

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

Share to Intermediate Filament Proteins

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Share to Photoreceptor Cells, Vertebrate

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Source

Identifiers

PMID: 11704030
DOI: 10.1016/s0002-9394(01)01179-5

Genes

ERG
CRX
RHO

Provenance

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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