title: Emerging therapies for inherited retinal degeneration.
abstract: Inherited retinal degenerative diseases, a genetically and phenotypically heterogeneous group of disorders, affect the function of photoreceptor cells and are among the leading causes of blindness. Recent advances in molecular genetics and cell biology are elucidating the pathophysiological mechanisms underlying these disorders and are helping to identify new therapeutic approaches, such as gene therapy, stem cell therapy, and optogenetics. Several of these approaches have entered the clinical phase of development. Artificial replacement of dying photoreceptor cells using retinal prostheses has received regulatory approval. Precise retinal imaging and testing of visual function are facilitating more efficient clinical trial design. In individual patients, disease stage will determine whether the therapeutic strategy should comprise photoreceptor cell rescue to delay or arrest vision loss or retinal replacement for vision restoration.
authors.affiliation: Department of Ophthalmology, University of Basel, 4056 Basel, Switzerland. hendrik.scholl@usb.ch.|Wilmer Eye Institute, Johns Hopkins University, Baltimore, MD 21287, USA.
authors.forename: Hendrik P N
authors.initials: HP
authors.lastname: Scholl
authors.affiliation: Wilmer Eye Institute, Johns Hopkins University, Baltimore, MD 21287, USA.|Moorfields Eye Hospital, London EC1V 2PD, U.K.|UCL Institute of Ophthalmology, University College London, London EC1V 9EL, U.K.|Department of Ophthalmology, Medical University Graz, Graz, Austria.|Department of Ophthalmology, Johannes Kepler University Linz, 4021 Linz, Austria.
authors.forename: Rupert W
authors.initials: RW
authors.lastname: Strauss
authors.affiliation: Wilmer Eye Institute, Johns Hopkins University, Baltimore, MD 21287, USA.
authors.forename: Mandeep S
authors.initials: MS
authors.lastname: Singh
authors.affiliation: INSERM, UMR S 968, 75012 Paris, France.|Sorbonne Universités, UPMC Univ Paris 06, Institut de la Vision, Paris, France.|CNRS, UMR 7210, 75012 Paris, France.
authors.forename: Deniz
authors.initials: D
authors.lastname: Dalkara
authors.affiliation: Department of Ophthalmology, University of Basel, 4056 Basel, Switzerland.|Neural Circuit Laboratories, Friedrich Miescher Institute for Biomedical Research, 4058 Basel, Switzerland.
authors.forename: Botond
authors.initials: B
authors.lastname: Roska
authors.affiliation: INSERM, UMR S 968, 75012 Paris, France.|Sorbonne Universités, UPMC Univ Paris 06, Institut de la Vision, Paris, France.|CNRS, UMR 7210, 75012 Paris, France.
authors.forename: Serge
authors.initials: S
authors.lastname: Picaud
authors.affiliation: INSERM, UMR S 968, 75012 Paris, France.|Sorbonne Universités, UPMC Univ Paris 06, Institut de la Vision, Paris, France.|CNRS, UMR 7210, 75012 Paris, France.|Fondation Ophtalmologique Adolphe de Rothschild, 75019 Paris, France.|Centre d'Investigation Clinique 1423, INSERM-Center Hospitalier National d'Ophtalmologie des Quinze-Vingts, 75012 Paris, France.|Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
authors.forename: José-Alain
authors.initials: JA
authors.lastname: Sahel
mesh_terms: D000818:Animals; D002986:Clinical Trials as Topic; D020022:Genetic Predisposition to Disease; D015316:Genetic Therapy; D006801:Humans; D008967:Molecular Biology; D062308:Optogenetics; D010786:Photoreceptor Cells; D012160:Retina / Q000503:physiopathology; D012162:Retinal Degeneration / Q000235:genetics* / Q000503:physiopathology* / Q000628:therapy; D033581:Stem Cell Transplantation; D013234:Stem Cells / Q000166:cytology; D014785:Vision, Ocular / Q000502:physiology; D057488:Visual Prosthesis