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...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:JAMA Ophthalmol
Auteurs principaux: 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
Langue:Inglês
Publié: American Medical Association 2020
Sujets:
Original Investigation
Accès en ligne: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
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires