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Article

Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.

Molecular vision - 10 Mar 2008

Ramprasad Vedam Lakshmi, Soumittra Nagasamy, Nancarrow Derek, Sen Parveen, McKibbin Martin, Williams Grange A, Arokiasamy Tharigopala, Lakshmipathy Praveena, Inglehearn Chris F, Kumaramanickavel Govindasamy

Abstract excerpt

PURPOSE: Leber congenital amaurosis (LCA) is one of the most common causes of hereditary blindness in infants. To date, mutations in 13 known genes and at two other loci have been implicated in LCA causation. An examination of the known genes highlights several processes which, when defective, cause LCA, including photoreceptor development and maintenance, phototransduction, vitamin A metabolism, and protein...

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Source

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Identifiers

PMID: 18334959
PMCID: PMC2268850

Genes

LCA5

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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Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.PMID 18334959Read ↗

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.Semantic proximity Read ↗

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