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Article

CRB1 gene mutations are associated with keratoconus in patients with leber congenital amaurosis.

Investigative ophthalmology & visual science - 1 Jul 2009

McMahon Timothy T, Kim Linda S, Fishman Gerald A, Stone Edwin M, Zhao Xinping C, Yee Richard W, Malicki Jarema

Abstract excerpt

PURPOSE: To present an association of mutations in the CRB1 gene with keratoconus in patients with Leber congenital amaurosis (LCA). METHODS: Sixteen patients with genotyped LCA (having the CRB1, CRX, RetGC, RPE65, and AIPL1 mutations) were recruited from one ophthalmology practice and examined for the presence of keratoconus. Corneal topography, visual acuity, and slit lamp biomicroscopic examination were...

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Source

Identifiers

PMID: 19407021
DOI: 10.1167/iovs.08-2886

Genes

CRB1
CRX
AIPL1
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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