Novel Mutation in BEST1 Associated with Atypical Best Vitelliform Dystrophy

Purpose Best vitelliform macular dystrophy is a hereditary retinal disease characterized by accumulation of lipofuscin in the central macula of both eyes. Lesions typically emerge in the first to second decade and frequently lead to significant visual acuity reduction. The diagnosis is made by the presence of characteristic fundus appearance, identification of a family history, electrooculography abnormalities, and genetic testing for mutations of the BEST1 gene. The following report illustrates a case of an atypical Best vitelliform dystrophy associated with a novel variant in the BEST1 gene. Case Report A 52-year-old man with a history of Best disease diagnosed at age 16 presented for a routine examination. Retinal examinations and fundus photographs over 13 years demonstrated bilateral paramacular lesions transitioning from vitelliform to atrophic in appearance. Electrooculography testing revealed a reduced Arden ratio of 1.371 OD and 1.291 OS. Optical coherence tomography, fundus autofluorescence, fluorescein angiography, and electroretinography were also performed. Sequence analysis of the BEST1 gene revealed a novel missense mutation. Conclusions Genetic sequence analysis of BEST1 is important in the diagnosis of Best vitelliform dystrophy, particularly in unusual cases, and helps to further our knowledge and understanding of this disease.