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Q Zhang, S Li, X Xiao, X Guo, X Jia; An A112V mutation in the CRX gene identified in 3 Chinese family with retinal degeneration other than LCA . Invest. Ophthalmol. Vis. Sci. 2002;43(13):812.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: To Screen for CRX mutations in patients with retinal degeneration other than Leber congenital amaurosis. Methods: Genemic DNA was prepared from 23 probands with macular choroid atrophy, 180 probands with high myopia, 18 patients with cone-rod dystrophy, and 90 unselected individuals without retinal degeneration. The coding sequences of the CRX gene were analyzed using PCR-heteroduplex-SSCP method. Mutations were confirmed by DNA sequencing. Results: We identified an A112V(C→T, GCC→GTC) heterozygous mutation in the CRX gene in three patients but not in the 90 controls. Of the three patients, one had macular choroids atrophy, another had high myopia, and the third one had cone-rod dystrophy. The child diadnosed as cone-rod dystrophy at 4 month old with visual test and ERG examination became normal in the following examination at 16 month-old. His father also had the same mutation without any ocular abnormalities. Conclusion: An novel A112V mutation was identified in 3 families with retinal degeneration but was not detected in 90 normal unselected individuals without a family history of retinal degeneration.
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