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Article

Retinal dystrophies caused by mutations in RPE65: assessment of visual functions.

The British journal of ophthalmology - 1 Apr 2001

Hamel C P, Griffoin J M, Lasquellec L, Bazalgette C, Arnaud B

Abstract excerpt

AIMS: To characterise the disease in patients with mutations in RPE65. METHODS: Individuals from two families were studied clinically. RESULTS: 13 and 20 year old compound heterozygote individuals from one family with R234X and 1121delA mutations showed nystagmus, macular dystrophy and low contra...

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Source

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Identifiers

PMID: 11264131
DOI: 10.1136/bjo.85.4.424
PMCID: PMC1723940

Genes

RPE65

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11264131-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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