A Rare Case of Best Vitelliform Macular Dystrophy

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BSTRACT

Best vitelliform macular dystrophy (BVMD) is an autosomal dominant bestrophinopathy caused by mutations in the BEST1 gene, characteristically affecting the retinal pigment epithelium and producing a distinctive egg-yolk macular appearance. We report a 54-year-old man who presented for routine ophthalmological evaluation with bilateral visual acuity of 6/12 correcting to 6/6. Fundus examination revealed yellowish macular lesions with multiple flecks in both eyes. Optical coherence tomography demonstrated elevated hyperreflective lesions beneath the retinal pigment epithelium bilaterally, and electrooculogram showed a reduced Arden ratio of 1.1, consistent with BVMD. The anterior segment and peripheral retina were unremarkable. A diagnosis of BVMD was established based on the characteristic clinical findings, imaging, and electrophysiological evidence. This case highlights the atypical presentation of BVMD with concurrent multiple macular flecks alongside the classic vitelliform lesion, underscoring the importance of recognising phenotypic variability within this rare inherited macular dystrophy.