Double hyperautofluorescent ring on fundus autofluorescence in ABCA4

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...

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Détails bibliographiques
Publié dans:Ophthalmic Genet
Auteurs principaux: Abalem, Maria Fernanda, Qian, Cynthia X., Branham, Kari, Schlegel, Dana, Fahim, Abigail T., Khan, Naheed W., Heckenlively, John, Jayasundera, Thiran
Format: Artigo
Langue:Inglês
Publié: 2017
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5950710/
https://ncbi.nlm.nih.gov/pubmed/28726568
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/13816810.2017.1335330
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