Fundus Flavimaculatus - a form of Stargardt

Images above belong to a 15-year-old male who was diagnosed with fundus flavimaculatus, which is a phenotypic variation of the same genetic mutation underlying Stargardt disease. Both cause macular retinal pigment epithelial (RPE) atrophy and decreased visual acuity and exhibit autosomal recessive inheritance. Fundus flavimaculatus is characterized by macular atrophic changes and subretinal lipofuscin flecks. Stargardt disease may lack flecks. This patient’s visual acuity was 20/125 in the right eye and 20/100 in the left. Color fundus and fundus autofluorescence (FAF) images show scattered subretinal flecks in the periphery and mid-periphery in both eyes (yellow arrows). Also seen are central macular atrophic changes due to degeneration of the RPE and photoreceptors (white arrows). In his optical coherence tomography (OCT) scans, blue arrows point to lipofuscin that has accumulated in the retinal pigment epithelial layer. Peripheral vision is generally unaffected. Excessive consumption of Vitamin A can worsen the disease. There are currently no treatments available for fundus flavimaculatus. Low vision aids may be helpful.