Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation

PURPOSE: To describe the retinal clinical features of a group of Mexican patients with Stargardt disease carrying the uncommon p.Ala1773Val founder mutation in ABCA4. METHODS: Ten patients carrying the p.Ala1773Val mutation, nine of them homozygously, were included. Visual function studies included...

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Detalles Bibliográficos
Autores principales: López-Rubio, Salvador, Chacon-Camacho, Oscar F., Matsui, Rodrigo, Guadarrama-Vallejo, Dalia, Astiazarán, Mirena C., Zenteno, Juan C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5800431/
https://www.ncbi.nlm.nih.gov/pubmed/29422768

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5800431/
https://www.ncbi.nlm.nih.gov/pubmed/29422768

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