Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies

Autor: Leo, Sheck, Wayne I L, Davies, Phillip, Moradi, Anthony G, Robson, Neruban, Kumaran, Alki C, Liasis, Andrew R, Webster, Anthony T, Moore, Michel, Michaelides

Publikováno v: Ophthalmology

Purpose To investigate and describe in detail the demographics, functional and anatomic characteristics, and clinical course of Leber congenital amaurosis (LCA) associated with mutations in the CEP290 gene (LCA-CEP290) in a large cohort of adults and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::57182bc1a380047f360c4a4b9014e2a2
https://pubmed.ncbi.nlm.nih.gov/29398085

Restoration of Cone Sensitivity to Individuals with Congenital Photoreceptor Blindness within the Phase 1/2 Sepofarsen Trial.

Autor: Cideciyan AV; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Jacobson SG; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Ho AC; Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania., Krishnan AK; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Roman AJ; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Garafalo AV; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Wu V; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Swider M; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Sumaroka A; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Van Cauwenbergh C; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium., Russell SR; The University of Iowa Institute for Vision Research, University of Iowa, Iowa City, Iowa., Drack AV; The University of Iowa Institute for Vision Research, University of Iowa, Iowa City, Iowa., Leroy BP; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Division of Ophthalmology and Center for Cellular & Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Schwartz MR; ProQR Therapeutics, Leiden, The Netherlands., Girach A; ProQR Therapeutics, Leiden, The Netherlands.

Publikováno v: Ophthalmology science [Ophthalmol Sci] 2022 Mar 02; Vol. 2 (2), pp. 100133. Date of Electronic Publication: 2022 Mar 02 (Print Publication: 2022).