Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy

OBJECTIVES: No therapeutic interventions are currently available for autosomal dominant retinitis pigmentosa (adRP). An RPE65 Asp477Gly transition associates with late-onset adRP, reduced RPE65 enzymatic activity being one feature associated with this dominant variant. Our objective: to assess wheth...

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Detalles Bibliográficos
Autores principales: Kenna, Paul F, Humphries, Marian M, Kiang, Anna-Sophia, Brabet, Philippe, Guillou, Laurent, Ozaki, Ema, Campbell, Matthew, Farrar, G Jane, Koenekoop, Robert, Humphries, Pete
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2020
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7228561/
https://www.ncbi.nlm.nih.gov/pubmed/32426524
http://dx.doi.org/10.1136/bmjophth-2020-000462

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7228561/
https://www.ncbi.nlm.nih.gov/pubmed/32426524
http://dx.doi.org/10.1136/bmjophth-2020-000462

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