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Article

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.

Molecular vision - 1 Jan 2011

Ahmad Adeel, Daud Shakeela, Kakar Naseebullah, Nürnberg Gudrun, Nürnberg Peter, Babar Masroor Ellahi, Thoenes Michaela, Kubisch Christian, Ahmad Jamil, Bolz Hanno Jörn

Abstract excerpt

PURPOSE: To determine the cause of Leber congenital amaurosis (LCA) and developmental cataracts in a consanguineous Pakistani family. METHODS: The diagnosis was established in all affected individuals of a Pakistani LCA family by medical history, funduscopy, and standard ERG. We performed genome-wide linkage analysis for mapping the disease locus in this family. RESULTS: Congenitally severely reduced visual...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21850168
PMCID: PMC3154126

Genes

LCA5
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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