Stargardt Disease
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Description
Description
A patient with bilateral progressive vision loss who presents to clinic for evaluation. Patient's vision loss started in childhood, with initial vision being 20/200 in both eyes. Fundus photos show optic nerve pallor, macular atrophy and extensive pigmentary changes in the periphery. Genetic testing reveals 3 pathogenic and 1 likely pathogenic variant in ABCA4 gene. A diagnosis of Stargardt Disease is made.
Uploaded on: 12/02/2024
