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Article

Novel RDH12 sequence variations in Leber congenital amaurosis.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Aug 2010

Sodi Andrea, Caputo Roberto, Passerini Ilaria, Bacci Giacomo Maria, Menchini Ugo

Abstract excerpt

Leber congenital amaurosis (LCA) designates a severe congenital retinal dystrophy generally inherited in an autosomal-recessive manner and accounting for 5% of inherited retinopathies. Its main clinical features are severe visual loss, sensory nystagmus, amaurotic pupils, and unrecordable electroretinographic response. LCA has been associated with sequence variations of 14 different genes; in approximately 30% of...

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Identifiers

PMID: 20736127
DOI: 10.1016/j.jaapos.2010.04.010

Genes

RDH12

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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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