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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Dades bibliogràfiques
Publicat a:BMJ Open Ophthalmol
Autors principals: Kenna, Paul F, Humphries, Marian M, Kiang, Anna-Sophia, Brabet, Philippe, Guillou, Laurent, Ozaki, Ema, Campbell, Matthew, Farrar, G Jane, Koenekoop, Robert, Humphries, Pete
Format: Artigo
Idioma:Inglês
Publicat: BMJ Publishing Group 2020
Matèries:
Original Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7228561/
https://ncbi.nlm.nih.gov/pubmed/32426524
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bmjophth-2020-000462
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