Retinal hypoplasia and degeneration result in vision loss in Friedreich ataxia

OBJECTIVE: Friedreich ataxia (FRDA) is an inherited condition caused by a GAA triplet repeat (GAA‐TR) expansion in the FXN gene. Clinical features of FRDA include ataxia, cardiomyopathy, and in some, vision loss. In this study, we characterize features of vision loss in a large cohort of adults and...

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Detalles Bibliográficos
Autores principales: Rodden, Layne N., McIntyre, Kellie, Keita, Medina, Wells, Mckenzie, Park, Courtney, Profeta, Victoria, Waldman, Amy, Rummey, Christian, Balcer, Laura J., Lynch, David R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10424660/
https://www.ncbi.nlm.nih.gov/pubmed/37334854
http://dx.doi.org/10.1002/acn3.51830

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