Atypical best disease or AOVMD? A three-generation diagnostic dilemma

Abstract

Vitelliform macular dystrophy is an inherited condition with a gradual decrease in visual function. Differentiation between the various types may be cumbersome when the age of onset, clinical findings, and inheritance are studied. Best disease can present in childhood with progressive and characteristic changes in the macula. Adult-onset vitelliform macular dystrophy (AOVMD) occurs after the second decade with a variation in the clinical and investigational findings. We report a case of vitelliform macular dystrophy with features suggestive of Best disease as well as AOVMD.