Best Macular Dystrophy: A Case Report

Best macular dystrophy, also called vitelliform macular dystrophy, is an autosomal dominant disease described by Frederick Best in 1905. It classically occurs in childhood and is characterized by macular deposits of vitelline material. We report the case of a 5-year-old female patient with no particular pathologic history. Ophthalmologic examination revealed corrected visual acuity of 10/10 for both eyes, and anterior segment examination was unremarkable. Fundus examination revealed a yellowish oval macular lesion with an irregular grayish center on the right and a yellowish macular focus on the left. Autofluorescence images showed bilateral perifoveal hyperautofluorescence with central hypo fluorescence. Macular optical coherence tomography (OCT) showed serous retinal detachment with retinal pigment epithelium (RPE) changes in both eyes and a hyperreflective subretinal deposit in the left eye. Paraclinical examinations, including electrophysiologic testing and angiography, could not be performed because of the young age. On examination of the ocular fundus of the mother and uncle, we discovered different stages of the same pathology. Considering this discovery, the age, and the bilateral nature of the disease, the diagnosis of Best disease was suspected and confirmed by genetic testing, which revealed a BEST1 mutation. We suggested a simple surveillance of the patient and her mother and uncle.