Genetic variations in Bestrophin‑1 and associated clinical findings in two Chinese patients with juvenile‑onset and adult‑onset best vitelliform macular dystrophy.

ABSTRACT: Best vitelliform macular dystrophy (BVMD) is a hereditary retinal disease characterized by the bilateral accumulation of large egg yolk‑like lesions in the sub‑retinal and sub‑retinal pigment epithelium spaces. Macular degeneration in BVMD can begin in childhood or adulthood. The variation in the age of onset is not clearly understood. The present study characterized the clinical characteristics of two Chinese patients with either juvenile‑onset BVMD or adult‑onset BVMD and investigated the underlying genetic variations. A 16‑year‑old male (Patient 1) was diagnosed with juvenile‑onset BVMD and a 43‑year‑old female (Patient 2) was diagnosed with adult‑onset BVMD. Comprehensive ophthalmic examinations were performed, including best‑corrected visual acuity, intraocular pressure, slit‑lamp exa

SUBMITTER: Lin Y 

PROVIDER: S-EPMC5780130 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature