Early-onset, autosomal recessive, progressive retinal atrophy in Persian cats

HyungChul Rah, David J Maggs, Thomas N. Blankenship, Kristina Narfstrom, Leslie A Lyons

Research output: Contribution to journalArticle

37 Citations (Scopus)

Abstract

PURPOSE. An early-onset retinal degenerative disease has been identified in Persian cats. This study genetically, clinically, and histologically characterized the disease. A breeding colony was established to assist with identification of the causative gene and to provide a resource for vision research. METHODS. Cats were produced from testcross breedings. Kittens underwent serial ophthalmic and neuro-ophthalmic examinations. Globes were harvested from age-matched affected, obligate carrier, and control cats and were evaluated by light microscopy. Fluorescein angiography assessed retinal and choroidal vasculature. RESULTS. Test breedings confirmed an autosomal recessive mode of inheritance. Rate and extent of disease progression were similar among individual affected cats. The earliest clinical signs (reduced pupillary light reflexes) were seen at 2 to 3 weeks of age. Retinal degeneration was virtually complete by 16 weeks of age. Histologic changes progressed rapidly and paralleled clinical findings. Histologic lesions were limited to the photoreceptors, outer plexiform layer, and retinal pigment epithelium in all but the terminal stages, when subtle changes were noted within the inner nuclear layer. CONCLUSIONS. Characterized in this study was an autosomal recessive, early-onset, retinal degenerative disease in Persian cats that is likely to be more prevalent in this breed than previously suspected. This feline disease model may identify a new gene or provide biological insight into some forms of early-onset retinitis pigmentosa (RP) in humans and genetic retinal degenerations in other species. A breeding colony that will assist in the identification of the causative gene has been established and is available for studies in vision research.

Original languageEnglish (US)
Pages (from-to)1742-1747
Number of pages6
JournalInvestigative Ophthalmology and Visual Science
Volume46
Issue number5
DOIs
StatePublished - 2005

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Atrophy
Cats
Breeding
Retinal Diseases
Retinal Degeneration
Cat Diseases
Pupillary Reflex
Genes
Light
Retinitis Pigmentosa
Retinal Pigment Epithelium
Fluorescein Angiography
Medical Genetics
Research
Disease Progression
Microscopy

ASJC Scopus subject areas

  • Ophthalmology

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Early-onset, autosomal recessive, progressive retinal atrophy in Persian cats. / Rah, HyungChul; Maggs, David J; Blankenship, Thomas N.; Narfstrom, Kristina; Lyons, Leslie A.

In: Investigative Ophthalmology and Visual Science, Vol. 46, No. 5, 2005, p. 1742-1747.

Research output: Contribution to journalArticle

Rah, HyungChul ; Maggs, David J ; Blankenship, Thomas N. ; Narfstrom, Kristina ; Lyons, Leslie A. / Early-onset, autosomal recessive, progressive retinal atrophy in Persian cats. In: Investigative Ophthalmology and Visual Science. 2005 ; Vol. 46, No. 5. pp. 1742-1747.
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N2 - PURPOSE. An early-onset retinal degenerative disease has been identified in Persian cats. This study genetically, clinically, and histologically characterized the disease. A breeding colony was established to assist with identification of the causative gene and to provide a resource for vision research. METHODS. Cats were produced from testcross breedings. Kittens underwent serial ophthalmic and neuro-ophthalmic examinations. Globes were harvested from age-matched affected, obligate carrier, and control cats and were evaluated by light microscopy. Fluorescein angiography assessed retinal and choroidal vasculature. RESULTS. Test breedings confirmed an autosomal recessive mode of inheritance. Rate and extent of disease progression were similar among individual affected cats. The earliest clinical signs (reduced pupillary light reflexes) were seen at 2 to 3 weeks of age. Retinal degeneration was virtually complete by 16 weeks of age. Histologic changes progressed rapidly and paralleled clinical findings. Histologic lesions were limited to the photoreceptors, outer plexiform layer, and retinal pigment epithelium in all but the terminal stages, when subtle changes were noted within the inner nuclear layer. CONCLUSIONS. Characterized in this study was an autosomal recessive, early-onset, retinal degenerative disease in Persian cats that is likely to be more prevalent in this breed than previously suspected. This feline disease model may identify a new gene or provide biological insight into some forms of early-onset retinitis pigmentosa (RP) in humans and genetic retinal degenerations in other species. A breeding colony that will assist in the identification of the causative gene has been established and is available for studies in vision research.

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