Best Vitelliform Macular Dystrophy

A patient presented to the clinic after years of progressive blurry vision. The patient reported that at the age of 5 while he lived abroad, that he had a retinal scar, but he was asymptomatic at that time. The patient tried wearing glasses over the years, but they never fully improved his vision. He noted that at the age of 36, his vision started becoming progressively worse. He was diagnosed with age-related macular degeneration at that time. At time of examination, the patient was seeing 20/40 OD and 20/150 OS. Intraocular pressure was within normal limits. Slit lamp exam was unremarkable. Retinal fundus exam showed diffuse atrophy with macular scaring OU. Macular OCT showed subretinal fluid, outer-retinal atrophy, and an irregular RPE OU. Additionally, Macular OCT showed subretinal hyperreflective lesions OS. Genetic testing was performed, which showed a BEST1 c.11c>T Missense mutation, consistent with a diagnosis of Best Vitelliform Macular Dystrophy.

Presentation Date: 11/16/2023

Issue Date: 12/15/2023