Multimodal imaging and genetic analysis of adult-onset best vitelliform macular dystrophy in Chinese patients.

ABSTRACT: Compared to juvenile-onset best vitelliform macular dystrophy (BVMD), adult-onset BVMD is not well characterized and lacks strict diagnostic criteria. The present study aimed to evaluate the clinical and genetic characteristics of four advanced-age Chinese patients with adult-onset BVMD by combining multimodal imaging and genetic analysis. The four patients (all older than 50 years) were diagnosed with adult-onset BVMD at Zhongshan Ophthalmic Center (Guangzhou, China). Comprehensive ophthalmic examinations were performed, including analyses of best-corrected visual acuity, intraocular pressure, slit-lamp examination, fundus photography, optical coherence tomography, fundus fluorescein angiography and electrooculography. Genomic DNA was extracted from leukocytes isolated from peripheral blo

SUBMITTER: Lin Y 

PROVIDER: S-EPMC8343652 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature