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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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| Publicado no: | Ophthalmic Genet |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
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| Assuntos: | |
| Acesso em linha: | 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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