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Article

Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.

Investigative ophthalmology & visual science - 1 Sept 2005

Zernant Jana, Külm Maigi, Dharmaraj Sharola, den Hollander Anneke I, Perrault Isabelle, Preising Markus N, Lorenz Birgit, Kaplan Josseline, Cremers Frans P M, Maumenee Irene, Koenekoop Robert K, Allikmets Rando

Abstract excerpt

PURPOSE: Leber congenital amaurosis (LCA) is an early-onset inherited disorder of childhood blindness characterized by visual impairment noted soon after birth. Variants in at least six genes (AIPL1, CRB1, CRX, GUCY2D, RPE65, and RPGRIP1) have been associated with a diagnosis consistent with LCA or early-onset retinitis pigmentosa (RP). Genetically heterogeneous inheritance complicates the analyses of LCA cases,...

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Source

Identifiers

PMID: 16123401
DOI: 10.1167/iovs.05-0111

Genes

AIPL1
CRB1
CRX
LRAT
MERTK
RPE65
RPGRIP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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