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T. T. McMahon, L. S. Kim, G. A. Fishman, E. M. Stone, X. C. Zhao, R. W. Yee, J. Malicki; CRB1 Gene Mutations Are Associated With Keratoconus in Patients With Leber Congenital Amaurosis. Invest. Ophthalmol. Vis. Sci. 2007;48(13):1838.
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To present an association of mutations in the CRB1 gene with keratoconus in Leber congenital amaurosis (LCA).
Sixteen genotyped patients with LCA from one practice were examined for the presence of keratoconus. Corneal topography, visual acuities and slitlamp exams were performed on all cases.
The mean age 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. Genotypes identified in the cohort by individual and family are found in the table below. Five of 16 cases had slitlamp and/or topographic features consistent with keratoconus, including central or inferior steepeing, Fleischer ring, Voft striae and/or anterior apical stromal scarring. One patient had a clinical picture that was keratoglobus-like. Of these 6 cases, 4 had a CRB1 mutation and 2 had CRX mutations. Of the 3 subjects with CRX mutations one had keratoconus, one had a keratoglobus-like presentation and one was normal. Our cohort represents 14 separate, unrelated families. Only one family provided multiple members with LCA. These were 3 affected brothers, one with keratoconus, all having CRB1 mutations (*).
While not exclusive of other gene mutations, our study suggests that LCA patients with a CRB1 mutation may have a particular susceptibility to developing keratoconus.
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