Genotype–Phenotype Analysis of Bietti’s Crystalline Dystrophy in Patients withCYP4V2Mutations
Investigative Ophthalmology & Visual Science2007Vol. 48(11), pp. 5212–5212
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Timothy Y. Y. Lai, Tsz Kin Ng, Pancy O. S. Tam, Gary H. F. Yam, Jasmine W. S. Ngai, Wai‐Man Chan, David T.L. Liu, Dennis S.C. Lam, Chi Pui Pang
Abstract
BCD patients with homozygous IVS6-8del17bp/insGC or compound heterozygous IVS6-8del17bp/insGC and IVS8-2A>G mutations appeared to have more severe disease phenotype based on electrophysiological testing. The level of visual loss in BCD is related to the severity of retinal thinning.
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