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Article

Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA.

Eye (London, England) - 1 Jul 2006

Ozgül R K, Bozkurt B, Kiratli H, Oğüş A

Abstract excerpt

BACKGROUND: Leber's congenital amaurosis (LCA) is an inherited retinal dystrophy, which causes severe visual impairment in early childhood. Recent molecular genetic studies have linked 11 loci (AIPL1, CRB1, CRX, GUCY2D, RPE65, RDH12, RPGRIP1, TULP1, LCA3, LCA5, and LCA9) to LCA. LCA5 is a new locus, which maps to the 6q11-q16 chromosomal region and was found to be associated with macular coloboma-type LCA in a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16082399
DOI: 10.1038/sj.eye.6702024

Genes

LCA5
RPE65
CRX
AIPL1
CRB1
RDH12
RPGRIP1
TULP1

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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