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Article

Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son.

Ophthalmic genetics - 1 Jun 2015

Arcot Sadagopan Karthikeyan, Battista Robert, Keep Rosanne B, Capasso Jenina E, Levin Alex V

Abstract excerpt

BACKGROUND: Leber congenital amaurosis (LCA) is most often an autosomal recessive disorder. We report a father and son with autosomal dominant LCA due to a mutation in the CRX gene. MATERIALS AND METHODS: DNA screening using an allele specific assay of 90 of the most common LCA-causing variations in the coding sequences of AIPL1, CEP290, CRB1, CRX, GUCY2D, RDH12 and RPE65 was performed on the father. Automated...

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Source

Identifiers

PMID: 24093488
DOI: 10.3109/13816810.2013.838273

Genes

CRX
AIPL1
CRB1
RDH12
RPE65

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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