Bilateral Asymmetric Best Vitelliform Macular Dystrophy in Adulthood: Insights from Multimodal Imaging

Abstract

Purpose: To report a case of bilateral asymmetric adult-onset Best vitelliform macular dystrophy (BVMD), emphasizing the role of multimodal imaging—including fundus autofluorescence (FAF), optical coherence tomography (OCT), and OCT angiography (OCTA)—in detecting retinal dysfunction and subclinical choroidal neovascularization (CNV), and discussing the importance of genetic testing and early intervention. Methods: A 34-year-old patient presenting with decreased vision underwent comprehensive ophthalmic examination, color fundus photography, FAF, OCT, and OCTA. Clinical features, imaging findings, and follow-up data were documented. Results: Asymmetric macular lesions were observed: a Stage IV vitelliruptive lesion in the right eye and a Stage III pseudohypopyon lesion in the left eye. FAF demonstrated central hypoautofluorescence with scattered hyperautofluorescent areas in the right eye and a heterogeneous semi-lunar pattern in the left eye. OCT revealed disruption of the outer retinal layers, with intraretinal fluid (IRF) in areas of RPE dysfunction. OCTA showed no evidence of active CNV at initial evaluation. The patient had no known family history of inherited retinal disease. Conclusion: Adult-onset BVMD can present asymmetrically with subtle progression. Multimodal imaging is essential for early detection of RPE dysfunction and subclinical CNV. Early identification of CNV and timely intravitreal anti-VEGF treatment, when necessary, can stabilize visual function. Genetic testing is recommended to guide diagnosis, counseling, and long-term management.