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Article

LCA5, a rare genetic cause of leber congenital amaurosis in Koreans.

Ophthalmic genetics - 1 Mar 2009

Seong Moon-Woo, Kim Seong Yeon, Yu Young Suk, Hwang Jeong-Min, Kim Ji Yeon, Park Sung Sup

Abstract excerpt

PURPOSE: Leber congenital amaurosis (LCA), the most severe form of inherited retinal dystrophy, is a genetically heterogenous disorder and more than nine genes only account for about half of LCA cases. Recently, LCA5 was identified as a rare genetic cause of LCA. Here, we analyzed the LCA5 gene in 14 LCA patients with no mutation identified in any other known LCA genes and 3 patients with one unclassified...

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Source

Identifiers

PMID: 19172513
DOI: 10.1080/13816810802592567

Genes

LCA5
RPGRIP1

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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