gms | German Medical Science

Purpose: Adult-onset vitelliform dystrophy (AOFVD) is a rare genetic macular dystrophy that usually results in slowly progressive Painless loss of vision. The Purpose of this case study is to present a unique case of Adult-onset vitelliform dystrophy leading to unilateral central scotoma after excluding the conventional differential diagnosis.

Methods: Retrospective analysis of a single case study. A 65-year-old male patient presented with a gradual unilateral central scotoma in his left eye without any precipitating factors. The patient was previously misdiagnosed as neovascular age-related macular degeneration and prepared for further management with intravitreal injections. An optical coherence tomography (OCT) scan showed that a vitelliform hyperreflective lesion (dome-shaped appearance) in a cystic space at the level of RPE.

Results: Adult-onset vitelliform dystrophy (AOFVD)) is a disorder primarily affecting patients after the age of 40, with no relevant past medical history, along with the absence of retinal, choroidal, systemic or autoimmune diseases, causing a gradual unilateral or bilateral loss of vision.OCT is performed to confirm our diagnosis as AOFVD and to exclude neovascular age-related macular degeneration (NAMD). Therefore, immediate consultation and appropriate discussion of the new diagnosis was done to explain the natural history of the disease and eliminate the need for unnecessary invasive procedures as repeated intravitreal injections.

Conclusions: Successful OCT image interpretation was the major milestone in the accurate diagnosis of AOFVD. High level of awareness for such rare condition can help avoid unnecessary interventions and lower morbidity in that specific patient population. Unfortunately, there is no medical or surgical management for AOFVD. Low vision aids are often needed. Gene therapy is currently being researched as a possible treatment.