Misdiagnosis and mismanagement in stage 4 best vitelliform macular dystrophy: a case report highlighting the role of multimodal imaging

Best vitelliform macular dystrophy (BVMD) is an autosomal dominant retinal disorder characterized by accumulation of lipofuscin in the macula, leading to progressive visual impairment. We report the case of a 42-year-old male diagnosed with stage 4 BVMD (vitelloruptive stage) who was previously mismanaged with multiple intravitreal anti-VEGF injections under the incorrect assumption of exudative pathology. Fundus photography revealed the characteristic “scrambled egg” appearance, while optical coherence tomography and fundus autofluorescence demonstrated hyperreflective subretinal deposits and hyperautofluorescence without any evidence of fluid accumulation or choroidal neovascularization. Despite the absence of electrooculography data, the diagnosis was supported by multimodal imaging. This case highlights the importance of accurate diagnosis and staging of BVMD, and emphasizes the need to avoid unnecessary therapeutic interventions in the non-exudative stages of the disease.