Best vitelliform macular dystrophy in a large Brazilian family

BACKGROUND: To describe the clinical and multimodal imaging findings of a Brazilian family with Best vitelliform macular dystrophy. METHODS: A retrospective chart review of a Brazilian family was conducted and complementary fundus images (color photography, autofluorescence, fluorescein angiography and optical coherence tomography) were analyzed. RESULTS: Seven patients had typical macular lesions at different stages of Best vitelliform macular dystrophy. Electrooculography was performed in two of them and showed abnormal Arden ratio. The pedigree strongly suggests an autosomal dominant inheritance. Low visual acuity was mainly associated with advanced age, retinal pigment epithelium atrophy, and photoreceptors damage. However, yellow subretinal deposits were evidenced in patients with better visual acuity. CONCLUSION: We present the largest case series of a Brazilian family with Best vitelliform macular dystrophy. Multimodal imaging analysis is important to determine retinal abnormalities. Retinal pigment epithelium atrophy and loss of photoreceptors outer segments seem to be a late but important finding related to severe visual acuity impairment.