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Article

Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutations.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 May 2005

Paunescu Karina, Wabbels Bettina, Preising Markus N, Lorenz Birgit

Abstract excerpt

PURPOSE: To quantify retinal function longitudinally and cross-sectionally in patients with autosomal-recessive early-onset severe retinal dystrophy (EOSRD) associated with RPE65 mutations. SUBJECTS AND METHODS: The ocular phenotype was characterized in four children from three families up to the...

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Identifiers

PMID: 15565294
DOI: 10.1007/s00417-004-1020-x

Genes

RPE65

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15565294-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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