Characterization of Bietti Crystalline Dystrophy Patients withCYP4V2Mutations
Investigative Ophthalmology & Visual Science2005Vol. 46(10), pp. 3812–3812
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Kelvin Y. C. Lee, Adrian H. Koh, Tin Aung, Victor H. K. Yong, Kit San Yeung, Chong-Lye Ang, Eranga N. Vithana
Abstract
This study identified novel mutations in the CYP4V2 gene as a cause of BCD. A high carrier frequency for the 15-bp deletion in exon 7 may exist in the Singapore population. Phenotype characterization showed clinical heterogeneity, and age did not correlate with disease severity.
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