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