A Case Series of Familial Macular Drusen: Clinical, Imaging, and Diagnostic Considerations in the Spectrum Between Age-Related Macular Degeneration (AMD) and Other Macular Disorders

Familial clustering of macular drusen in younger adults can mimic age-related macular degeneration (AMD) but may reflect an underlying inherited macular disorder. We describe a 72-year-old Chinese woman with high myopia and advanced neovascular AMD in one eye, who presented with progressive visual decline. Despite anti-vascular endothelial growth factor therapy, vision remained poor. Concerned about familial risk, her three adult children were examined. All three adult children (aged 46, 38, and 36 years) were asymptomatic despite drusen being detected on examination. This multigenerational clustering of drusen at relatively young ages raises suspicion for a possible hereditary macular disorder. This case highlights the need for family screening and genetic evaluation in atypical AMD presentations.