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Article

Leber congenital amaurosis: first genotyped Hungarian patients and report of 2 novel mutations in the CRB1 and CEP290 genes.

European journal of ophthalmology - 1 Jan 2000

Vámos Rita, Külm Maigi, Szabó Viktoria, Ahman Aune, Lesch Balázs, Schneider Miklós, Varsányi Balázs, Nagy Zoltán Zsolt, Németh János, Farkas Ágnes

Abstract excerpt

PURPOSE: To introduce the first Hungarian patients with genetically defined Leber congenital amaurosis (LCA) and to report 2 novel mutations. METHODS: Seven otherwise healthy patients (4-29 years, 5 male and 2 female) who had an onset of severe visual impairment before age 2 years were investigated. The diagnosis was established in all individuals by medical history, funduscopy, and full-field electroretinogram...

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Source

Identifiers

PMID: 26165328
DOI: 10.5301/ejo.5000643

Genes

CRB1
AIPL1
ERG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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