NOVEL AND HOMOZYGOUS BEST1 MUTATIONS IN CHINESE PATIENTS WITH BEST VITELLIFORM MACULAR DYSTROPHY

Abstract excerpt

In Brief Purpose: The purpose of this study was to investigate the BEST1 gene mutations in Chinese patients with Best vitelliform macular dystrophy (BVMD). Methods: Twenty-six subjects from 7 Chinese families with BVMD and 100 unrelated healthy Chinese subjects without a family history of BVMD were screened for mutations in the BEST1 gene by direct sequencing. The subjects underwent complete ophthalmologic...

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