Biology and therapy of inherited retinal degenerative disease: insights from mouse models

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 unc...

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Veröffentlicht in:Disease models & mechanisms Jg. 8; H. 2; S. 109 - 129
Hauptverfasser: Veleri, Shobi, Lazar, Csilla H., Chang, Bo, Sieving, Paul A., Banin, Eyal, Swaroop, Anand
Format: Journal Article
Sprache:Englisch
Veröffentlicht: England The Company of Biologists Ltd 01.02.2015
The Company of Biologists Limited
The Company of Biologists
Schlagworte:
Animals
Disease
Disease Models, Animal
Genes
Genetic Diseases, Inborn - therapy
Humans
Light Signal Transduction
Macular degeneration
Mice
Mouse mutants
Mutation
Photoreceptor
Photoreceptor Cells, Vertebrate - pathology
Photoreceptors
Proteins
Retina
Retina - pathology
Retina - physiopathology
Retinal Degeneration - therapy
Retinal development
Retinal disease
Review
Retinal development
Mouse mutants
Retinal disease
Photoreceptor
ISSN:1754-8403, 1754-8411, 1754-8411
Online-Zugang:Volltext
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Zusammenfassung: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.
Bibliographie:ObjectType-Article-1
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ISSN:1754-8403
1754-8411
1754-8411
DOI:10.1242/dmm.017913