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Article

A novel locus for Leber congenital amaurosis on chromosome 14q24.

Human genetics - 1 Sept 1998

Stockton D W, Lewis R A, Abboud E B, Al-Rajhi A, Jabak M, Anderson K L, Lupski J R

Abstract excerpt

Leber congenital amaurosis (LCA) is a clinically and genetically heterogeneous autosomal recessive retinal dystrophy and the most common genetic cause of congenital visual impairment. We used a DNA pooling strategy comparing the genotypes of affected to unaffected control pools in a genome-wide search for identity-by-descent on a consanguineous Saudi Arabian LCA family. A shift to homozygosity was observed in the...

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Identifiers

PMID: 9799089
DOI: 10.1007/s004390050825

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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