Stargardt’s Disease: A Visual Disability
Stargardt’s disease is an autosomal recessive disease resulting in dystrophy of the retina due to accumulation of lipofuscin secondary to impaired transport proteins of photoreceptors. The most severe phenotype of Stargardt’s disease is childhood-onset. Due to the heterogeneity, it may present with features such as macular atrophy, retinitis pigmentosa, , bulls-eye maculopathy, cone-rod dystrophy, and fundus flavimaculatus, among others. Most common findings of Stargardt’s disease are macular atrophy and yellow–white flecks at the level of the RPE at the posterior pole. Patient usually presents with blind spots, blurriness, sensitivity to glare, inability to differentiate between colors, delayed dark adaptation and wavy vision. Stargardt’s disease is a visual disability. Currently there is no management options available for said disease. Source Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1 https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.c.31838 Image via https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.c.31838