Stargardt Disease Due to an Intronic Mutation in the ABCA4: A Case Report

PURPOSE: To report on a patient with Stargardt disease (STGD1) and with an intronic mutation in the ABCA4 gene. PATIENTS AND METHODS: A 69-year-old female patient presented to the clinic complaining of progressive vision loss. The ophthalmic evaluation was remarkable for a best corrected visual acui...

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Detalles Bibliográficos
Autores principales: Lugo-Merly, Ambar, Molina Thurin, Leonardo J, Izquierdo-Encarnacion, Natalio J, Casillas-Murphy, Stella M, Oliver-Cruz, Armando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9719283/
https://www.ncbi.nlm.nih.gov/pubmed/36471740
http://dx.doi.org/10.2147/IMCRJ.S391001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9719283/
https://www.ncbi.nlm.nih.gov/pubmed/36471740
http://dx.doi.org/10.2147/IMCRJ.S391001

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