Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial

IMPORTANCE: Treatment trials require sound knowledge on the natural course of disease. OBJECTIVE: To assess clinical features, genetic findings, and genotype-phenotype correlations in patients with retinitis pigmentosa (RP) associated with biallelic sequence variations in the PDE6A gene in preparati...

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Publicat a:JAMA Ophthalmol
Autors principals: Kuehlewein, Laura, Zobor, Ditta, Andreasson, Sten Olof, Ayuso, Carmen, Banfi, Sandro, Bocquet, Beatrice, Bernd, Antje S., Biskup, Saskia, Boon, Camiel J. F., Downes, Susan M., Fischer, M. Dominik, Holz, Frank G., Kellner, Ulrich, Leroy, Bart P., Meunier, Isabelle, Nasser, Fadi, Rosenberg, Thomas, Rudolph, Günther, Stingl, Katarina, Thiadens, Alberta A. H. J., Wilhelm, Barbara, Wissinger, Bernd, Zrenner, Eberhart, Kohl, Susanne, Weisschuh, Nicole
Format: Artigo
Idioma:Inglês
Publicat: American Medical Association 2020
Matèries:
Original Investigation
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7563671/
https://ncbi.nlm.nih.gov/pubmed/33057649
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaophthalmol.2020.4206
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