Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy.

ABSTRACT: The aim of the present study was to investigate the clinical characteristics and the underlying genetic causes of Best vitelliform macular dystrophy (BVMD) in a sporadic case in a Chinese patient. A 10‑year‑old boy was diagnosed with BVMD; complete ophthalmic examinations were performed, including best‑corrected visual acuity, intraocular pressure, slit‑lamp examination, fundus photograph, optical coherence tomography and fundus fluorescein angiography imaging. Genomic DNA was extracted from leukocytes of the peripheral blood collected from this patient and his family members. DNA samples from 200 unrelated subjects from the Chinese population were used as controls. A total of 11 exons of the bestrophin 1 (BEST1) gene were amplified by polymerase chain reaction and directly sequenced. The

SUBMITTER: Lin Y 

PROVIDER: S-EPMC5647057 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature