LAUSR

Double hyperautofluorescent ring on fundus autofluorescence in ABCA4

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0 Published in 2018 at "Ophthalmic Genetics"

DOI: 10.1080/13816810.2017.1335330

Abstract: ABSTRACT 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… read more here.

Keywords: hyperautofluorescent ring; double hyperautofluorescent; fundus autofluorescence; hyperautofluorescent ... See more keywords