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

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

doi:10.1167/iovs.08-2886

Back

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

Journal article

Peer reviewed

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

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

Investigative ophthalmology & visual science, Vol.50(7), pp.3185-3187

07/2009

DOI: 10.1167/iovs.08-2886

PMID: 19407021

View Online

Abstract

To present an association of mutations in the CRB1 gene with keratoconus in patients with Leber congenital amaurosis (LCA). 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 performed in all cases. The mean age of the patients was 34.5 years (range, 13-74). Visual acuities ranged from 20/40 to light perception. Corneal topography was successfully collected in 15 of the cases. Five of the 16 cases had slit lamp and/or topographic features consistent with keratoconus. One patient had a clinical picture that was keratoglobus-like. Of these six cases, four had a CRB1 mutation and two had a CRX mutation. Of the three subjects with the CRX mutation, one had keratoconus, one had the keratoglobus-like presentation, and one was normal. Our cohort represents 14 separate, unrelated families. Only one family comprised multiple members with LCA. These were three affected brothers, one with keratoconus, all with CRB1 mutations. Although the results cannot exclude other gene mutations, they suggest that LCA patients with a CRB1 mutation may have a particular susceptibility to keratoconus.

Mutation

Retinal Degeneration - diagnosis

Humans

Middle Aged

Male

Corneal Topography

Young Adult

Keratoconus - diagnosis

Keratoconus - genetics

Trans-Activators - genetics

Adult

Female

Blindness - congenital

Eye Proteins - genetics

Visual Acuity - physiology

cis-trans-Isomerases

Electroretinography

Membrane Proteins - genetics

Retinal Degeneration - genetics

Genotype

Reverse Transcriptase Polymerase Chain Reaction

Nerve Tissue Proteins - genetics

Blindness - genetics

Homeodomain Proteins - genetics

Carrier Proteins - genetics

Pedigree

Adolescent

Guanylate Cyclase - genetics

Aged

Receptors, Cell Surface - genetics

Details

Title: Subtitle: CRB1 gene mutations are associated with keratoconus in patients with leber congenital amaurosis
Creators: Timothy T McMahon - Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois 60612, USA. timomcma@uic.edu
Linda S Kim
Gerald A Fishman
Edwin M Stone
Xinping C Zhao - The University of Texas Health Science Center at Houston
Richard W Yee
Jarema Malicki
Resource Type: Journal article
Publication Details: Investigative ophthalmology & visual science, Vol.50(7), pp.3185-3187
DOI: 10.1167/iovs.08-2886
PMID: 19407021
NLM abbreviation: Invest Ophthalmol Vis Sci
ISSN: 0146-0404
eISSN: 1552-5783
Publisher: United States
Grant note: EY01792 / NEI NIH HHS R03 EY017571 / NEI NIH HHS
Language: English
Date published: 07/2009
Academic Unit: Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983980285902771

Metrics

32 Record Views

37 Times Cited - Web of Science

See more details