title: Biology and therapy of inherited retinal degenerative disease: insights from mouse models.
abstract: Retinal neurodegeneration associated with the dysfunction or death of photoreceptors is a major cause of incurable vision loss. Tremendous progress has been made over the last two decades in discovering genes and genetic defects that lead to retinal diseases. The primary focus has now shifted to uncovering disease mechanisms and designing treatment strategies, especially inspired by the successful application of gene therapy in some forms of congenital blindness in humans. Both spontaneous and laboratory-generated mouse mutants have been valuable for providing fundamental insights into normal retinal development and for deciphering disease pathology. Here, we provide a review of mouse models of human retinal degeneration, with a primary focus on diseases affecting photoreceptor function. We also describe models associated with retinal pigment epithelium dysfunction or synaptic abnormalities. Furthermore, we highlight the crucial role of mouse models in elucidating retinal and photoreceptor biology in health and disease, and in the assessment of novel therapeutic modalities, including gene- and stem-cell-based therapies, for retinal degenerative diseases.
authors: Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
authors: Shobi
authors: S
authors: Veleri
authors: Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA. Molecular Biology Center, Interdisciplinary Research Institute on Bio-Nano Sciences, Babes-Bolyai-University, Cluj-Napoca, 400271, Romania.
authors: Csilla H
authors: CH
authors: Lazar
authors: The Jackson Laboratory, Bar Harbor, ME 04609, USA.
authors: Bo
authors: B
authors: Chang
authors: National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
authors: Paul A
authors: PA
authors: Sieving
authors: Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA. Center for Retinal and Macular Degenerations, Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.
authors: Eyal
authors: E
authors: Banin
authors: Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA. swaroopa@nei.nih.gov.
authors: Anand
authors: A
authors: Swaroop
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D030342:Genetic Diseases, Inborn / Q000628:therapy*; D006801:Humans; D055537:Light Signal Transduction; D051379:Mice; D020419:Photoreceptor Cells, Vertebrate / Q000473:pathology; D012160:Retina / Q000473:pathology / Q000503:physiopathology; D012162:Retinal Degeneration / Q000628:therapy*
keywords: Mouse mutants; Photoreceptor; Retinal development; Retinal disease
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