Adult-Onset Foveomacular Vitelliform Dystrophy with a Novel BEST1 Variant: A Case Report and Multimodal Imaging Characterization

Background: Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a rare macular disorder, with a subset of cases associated with BEST1 mutations. We report a case involving a previously undocumented BEST1 variant and highlight its multimodal imaging characteristics. Case Presentation: Case Presentation: A 43-year-old male presented with a 10-year history of progressive, painless blurred vision. Multimodal imaging revealed bilateral, elliptical vitelliform lesions. Optical coherence tomography (OCT) demonstrated subretinal hyperreflective material with preservation of the ellipsoid zone. Fundus autofluorescence showed central hypoautofluorescence surrounded by a hyperautofluorescent ring. Genetic testing identified a heterozygous BEST1 c.692G>A (p.Ser231Asn) variant, classified as a variant of uncertain significance (VUS) by the American College of Medical Genetics and Genomics (ACMG), though clinically suspected to be pathogenic. Conclusion: This case expands the mutational spectrum of AOFVD and underscores the pivotal role of multimodal imaging in its diagnosis and differentiation from other macular diseases. The identification of a novel BEST1 variant provides valuable insights for genetic counseling and highlights the need for functional studies to confirm its pathogenicity.