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Article

Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa.

The British journal of ophthalmology - 1 Dec 2004

Oh K T, Oh D M, Weleber R G, Stone E M, Parikh A, White J, Deboer-Shields K A, Streb L, Vallar C

Abstract excerpt

AIM: To describe the clinical characteristics and disease course of a large family with retinitis pigmentosa (RP) from an Arg135Leu change in rhodopsin. METHODS: 29 patients in this family were evaluated. Goldmann visual fields were performed on 14 affected individuals, Ganzfeld electroretinography (ERG) on eight individuals (11-56 years), and blood samples collected on 10 individuals (11-58 years). Patient...

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Identifiers

PMID: 15548806
DOI: 10.1136/bjo.2004.043653
PMCID: PMC1772449

Genes

ERG
RPE

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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