Adult Onset Foveomacular Vitelliform Dystrophy: A Case Report

Introduction: Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a rare pattern dystrophy that is frequently misdiagnosed and is characterized by subretinal lipofuscin accumulation at the macula in the subretinal space and is usually diagnosed after age 40. The lesions gradually increase and then decrease in size over the years, leaving atrophic retinal changes and a corresponding decrease in visual acuity.

Case Presentation: A 71-year-old male presents for a routine glaucoma follow-up and dilated fundus examination, which revealed recent macular changes in both eyes that resembled isolated large soft drusen. He reported that he recently underwent genetic testing and was a Complement Factor (CFH) mutation carrier, which put him at risk for age-related macular degeneration and cuticular drusen.

Management and Outcome: Further testing with ocular coherence tomography revealed a sub foveal lesion in both eyes with no inner segment/outer segment junction disruption, subretinal or intraretinal fluid. Patient was advised about AOFVD and sent for retina consult to confirm diagnosis.

Discussion: Adult-onset vitelliform maculopathy (AOFVD) is an uncommon retinal degeneration whose exact prevalence is unknown due to frequent confusion with other age-related conditions. This case demonstrates the importance of careful evaluation of macular changes in older adults to avoid misclassification and unhelpful management recommendations of this condition.