Article
Double hyperautofluorescent ring on fundus autofluorescence in ABCA4.
Ophthalmic genetics - 1 Jan 2000
Abalem Maria Fernanda, Qian Cynthia X, Branham Kari, Schlegel Dana, Fahim Abigail T, Khan Naheed W, Heckenlively John R, Jayasundera K Thiran
Abstract excerpt
We report an unusual phenotype in a child with a clinical diagnosis of recessive Stargardt disease (STGD1) and two pathogenic variants in the ABCA4 gene. Typically, the diagnosis of early-onset STGD1 is challenging because children may present with a variety of fundus changes and a variable rate of progression. At the time of his initial visit, the 6-year-old boy presented with 20/200 OD (right eye) and 20/150 OS...
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