Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants

PURPOSE: To report genetic and clinical features of two unrelated Japanese patients with early onset flecked retinal dystrophy. METHODS: Patients underwent comprehensive ophthalmic examinations that included electroretinography (ERG) after 30 min and 24 h of dark adaptation (DA). Disease-causing gen...

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Detalles Bibliográficos
Autores principales: Katagiri, Satoshi, Hosono, Katsuhiro, Hayashi, Takaaki, Kurata, Kentaro, Mizobuchi, Kei, Matsuura, Tomokazu, Yoshitake, Kazutoshi, Iwata, Takeshi, Nakano, Tadashi, Hotta, Yoshihiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5893010/
https://www.ncbi.nlm.nih.gov/pubmed/29681726

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