The Domestic Cat as a Large Animal Model for Characterization of Disease and Therapeutic Intervention in Hereditary Retinal Blindness

Large mammals, including canids and felids, are affected by spontaneously occurring hereditary retinal diseases with similarities to those of humans. The large mammal models may be used for thorough clinical characterization of disease processes, understanding the effects of specific mutations, eluc...

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Main Authors: Kristina Narfström, Koren Holland Deckman, Marilyn Menotti-Raymond
Format: Article
Language:English
Published: Wiley 2011-01-01
Series:Journal of Ophthalmology
Online Access:http://dx.doi.org/10.1155/2011/906943
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author Kristina Narfström
Koren Holland Deckman
Marilyn Menotti-Raymond
author_facet Kristina Narfström
Koren Holland Deckman
Marilyn Menotti-Raymond
author_sort Kristina Narfström
collection DOAJ
description Large mammals, including canids and felids, are affected by spontaneously occurring hereditary retinal diseases with similarities to those of humans. The large mammal models may be used for thorough clinical characterization of disease processes, understanding the effects of specific mutations, elucidation of disease mechanisms, and for development of therapeutic intervention. Two well-characterized feline models are addressed in this paper. The first model is the autosomal recessive, slowly progressive, late-onset, rod-cone degenerative disease caused by a mutation in the CEP290 gene. The second model addressed in this paper is the autosomal dominant early onset rod cone dysplasia, putatively caused by the mutation found in the CRX gene. Therapeutic trials have been performed mainly in the former type including stem cell therapy, retinal transplantation, and development of ocular prosthetics. Domestic cats, having large human-like eyes with comparable spontaneous retinal diseases, are also considered useful for gene replacement therapy, thus functioning as effective model systems for further research.
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institution Kabale University
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spelling doaj-art-7d9a84c5c59e41b6b1ae78cafdf8813e2025-02-03T01:31:08ZengWileyJournal of Ophthalmology2090-004X2090-00582011-01-01201110.1155/2011/906943906943The Domestic Cat as a Large Animal Model for Characterization of Disease and Therapeutic Intervention in Hereditary Retinal BlindnessKristina Narfström0Koren Holland Deckman1Marilyn Menotti-Raymond2Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, Mason Eye Institute, University of Missouri-Columbia, MO 65211, USADepartment of Chemistry, Gettysburg College, Gettysburg, PA 17325, USALaboratory of Genomic Diversity, National Cancer Institute-Frederick, Frederick, MD 21702-1201, USALarge mammals, including canids and felids, are affected by spontaneously occurring hereditary retinal diseases with similarities to those of humans. The large mammal models may be used for thorough clinical characterization of disease processes, understanding the effects of specific mutations, elucidation of disease mechanisms, and for development of therapeutic intervention. Two well-characterized feline models are addressed in this paper. The first model is the autosomal recessive, slowly progressive, late-onset, rod-cone degenerative disease caused by a mutation in the CEP290 gene. The second model addressed in this paper is the autosomal dominant early onset rod cone dysplasia, putatively caused by the mutation found in the CRX gene. Therapeutic trials have been performed mainly in the former type including stem cell therapy, retinal transplantation, and development of ocular prosthetics. Domestic cats, having large human-like eyes with comparable spontaneous retinal diseases, are also considered useful for gene replacement therapy, thus functioning as effective model systems for further research.http://dx.doi.org/10.1155/2011/906943
spellingShingle Kristina Narfström
Koren Holland Deckman
Marilyn Menotti-Raymond
The Domestic Cat as a Large Animal Model for Characterization of Disease and Therapeutic Intervention in Hereditary Retinal Blindness
Journal of Ophthalmology
title The Domestic Cat as a Large Animal Model for Characterization of Disease and Therapeutic Intervention in Hereditary Retinal Blindness
title_full The Domestic Cat as a Large Animal Model for Characterization of Disease and Therapeutic Intervention in Hereditary Retinal Blindness
title_fullStr The Domestic Cat as a Large Animal Model for Characterization of Disease and Therapeutic Intervention in Hereditary Retinal Blindness
title_full_unstemmed The Domestic Cat as a Large Animal Model for Characterization of Disease and Therapeutic Intervention in Hereditary Retinal Blindness
title_short The Domestic Cat as a Large Animal Model for Characterization of Disease and Therapeutic Intervention in Hereditary Retinal Blindness
title_sort domestic cat as a large animal model for characterization of disease and therapeutic intervention in hereditary retinal blindness
url http://dx.doi.org/10.1155/2011/906943
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