Characterization of an Early-Onset, Autosomal Recessive, Progressive Retinal Degeneration in Bengal Cats.

Published on Aug 1, 2015in Investigative Ophthalmology & Visual Science3.47
· DOI :10.1167/IOVS.15-16585
Ron Ofri22
Estimated H-index: 22
 (HUJI: Hebrew University of Jerusalem), Christopher M. Reilly14
Estimated H-index: 14
 (UC Davis: University of California, Davis)+ 6 AuthorsLeslie A. Lyons43
Estimated H-index: 43
 (UC Davis: University of California, Davis)
Sources
Abstract
The domestic cat (Felis silvestris catus) is a popular companion animal1,2 as well as an important model for human disease.3–5 Due to their more recent domestication,6–8 cats have relatively fewer breeds than dogs,9,10 and, accordingly, fewer inherited diseases have been identified in the domestic cat.4,11 However, several ophthalmic diseases in domestic cats have a genetic basis.12 Three distinct inherited forms of progressive retinal atrophy (PRA) are well documented in domestic cats: an early-onset, dominantly-inherited rod–cone dysplasia (rdy)13 and a late-onset recessively-inherited rod–cone degeneration (rdAc),14 both in Abyssinian cats; and an early-onset, recessively-inherited rod–cone dysplasia in Persian cats.15 The different modes of inheritance and clinical presentations seen among these retinopathies make affected cats excellent models for various human retinal diseases, including forms of retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA).12,16 The life span of the domestic cat and the size of its globe make this species an effective model for evaluation of gene therapies, as well as functional retinal prostheses.12,17 Therefore, detailed clinical, morphologic, and genetic descriptions of feline forms of PRA will support their use as naturally-occurring, large animal models for inherited retinal disease in humans. The Bengal cat breed was founded in the late 1960's by hybridization of domestic cats and a wild felid species, the Asian leopard (Prionailurus bengalensis).10,18 Predominantly two domestic cat breeds, Abyssinians and the Egyptian Mau, were used to found the Bengal breed and their genetic contribution is still evident.19 This study describes a fourth heritable retinal degeneration in domestic cats, specifically in the Bengal breed. Clinical, behavioral, electrophysiological, morphologic, and genetic evaluations of this PRA in Bengal cats suggest this disease could serve as a feline model for human autosomal recessive RP. The early-onset but gradual progression suggest this form of PRA may be a valuable cat model for evaluating gene therapies, pharmaceutical interventions, and visual prostheses.
Figures & Tables
Download
📖 Papers frequently viewed together
2015
9 Authors (R Ofri, ..., LA Lyons)
20053.47Investigative Ophthalmology & Visual Science
5 Authors (HyungChul Rah, ..., Leslie A. Lyons)
55 Citations
1991
5 Authors (Charles J Parshall, ..., Gustavo D. Aguirre)
30 Citations
References37
Newest
Jun 17, 2013·Scientific Reports4.00
#1Barbara Gandolfi (UC Davis: University of California, Davis)H-Index: 18
#2Hasan Alhaddad (UC Davis: University of California, Davis)H-Index: 14
Last. Leslie A. Lyons (UC Davis: University of California, Davis)H-Index: 43
view all 7 authors...
One of the salient features of the domestic cat is the aesthetics of its fur. The Selkirk Rex breed is defined by an autosomal dominant woolly rexoid hair (ADWH) abnormality that is characterized by tightly curled hair shafts. A genome-wide case – control association study was conducted using 9 curly coated Selkirk Rex and 29 controls, including straight-coated Selkirk Rex, British Shorthair and Persian, to localize the Selkirk autosomal dominant rexoid locus (SADRE). Although the control cats w...
29 CitationsSource
Jun 1, 2013·Animal Genetics2.84
#1Jennifer D. Kurushima (UC Davis: University of California, Davis)H-Index: 9
#2Monika J. Lipinski (UC Davis: University of California, Davis)H-Index: 6
Last. Leslie A. Lyons (UC Davis: University of California, Davis)H-Index: 43
view all 7 authors...
Summary Both cat breeders and the lay public have interests in the origins of their pets, not only in the genetic identity of the purebred individuals, but also in the historical origins of common household cats. The cat fancy is a relatively new institution with over 85% of its 40–50 breeds arising only in the past 75 years, primarily through selection on single-gene aesthetic traits. The short, yet intense cat breed history poses a significant challenge to the development of a genetic marker–b...
51 CitationsSource
Jun 1, 2013·Documenta Ophthalmologica1.29
#1Björn Ekesten (UASD: University of Agricultural Sciences, Dharwad)H-Index: 15
#2András M. Komáromy (UPenn: University of Pennsylvania)H-Index: 26
Last. Kristina Narfström (MU: University of Missouri)H-Index: 27
view all 5 authors...
The full-field, flash electroretinogram (ERG) is now a widely used test of canine retinal function for the clinical diagnosis of hereditary retinal dystrophies and other causes of retinal degeneration, assessment of retinal function in patients with opaque media, ruling out of generalized retinal diseases in patients with sudden loss of vision and in ophthalmo- logical research, as well as in pharmaceutical and toxicological screening for deleterious side effects of drugs and other chemical comp...
45 CitationsSource
Feb 25, 2013·Annual Review of Animal Biosciences6.09
#1Kristina Narfström (MU: University of Missouri)H-Index: 27
#2Koren Holland Deckman (Gettysburg College)H-Index: 4
Last. Marilyn Menotti-Raymond (NIH: National Institutes of Health)H-Index: 33
view all 3 authors...
Over 200 hereditary diseases have been identified and reported in the cat, several of which affect the eye, with homology to human hereditary disease. Compared with traditional murine models, the cat demonstrates more features in common with humans, including many anatomic and physiologic similarities, longer life span, increased size, and a genetically more heterogeneous background. The development of genomic resources in the cat has facilitated mapping and further characterization of feline mo...
8 CitationsSource
Dec 1, 2012·Molecular and Cellular Probes1.95
#1Leslie A. Lyons (UC Davis: University of California, Davis)H-Index: 43
Varieties of genetic tests are currently available for the domestic cat that support veterinary health care, breed management, species identification, and forensic investigations. Approximately thirty-five genes contain over fifty mutations that cause feline health problems or alterations in the cat’s appearance. Specific genes, such as sweet and drug receptors, have been knocked-out of Felidae during evolution and can be used along with mtDNA markers for species identification. Both STR and SNP...
15 CitationsSource
May 29, 2012·Proceedings of the National Academy of Sciences of the United States of America9.41
#1Jean-Denis Vigne (CNRS: Centre national de la recherche scientifique)H-Index: 40
#2François BrioisH-Index: 8
Last. Jean GuilaineH-Index: 21
view all 13 authors...
Early Neolithic sedentary villagers started cultivating wild cereals in the Near East 11,500 y ago [Pre-Pottery Neolithic A (PPNA)]. Recent discoveries indicated that Cyprus was frequented by Late PPNA people, but the earliest evidence until now for both the use of cereals and Neolithic villages on the island dates to 10,400 y ago. Here we present the recent archaeological excavation at Klimonas, which demonstrates that established villagers were living on Cyprus between 11,100 and 10,600 y ago....
86 CitationsSource
Feb 1, 2012·Mammalian Genome2.29
#1Keiko Miyadera (UPenn: University of Pennsylvania)H-Index: 9
#2Gregory M. Acland (Cornell University)H-Index: 54
Last. Gustavo D. Aguirre (UPenn: University of Pennsylvania)H-Index: 67
view all 3 authors...
Considerable clinical and molecular variations have been known in retinal blinding diseases in man and also in dogs. Different forms of retinal diseases occur in specific breed(s) caused by mutations segregating within each isolated breeding population. While molecular studies to find genes and mutations underlying retinal diseases in dogs have benefited largely from the phenotypic and genetic uniformity within a breed, within- and across-breed variations have often played a key role in elucidat...
60 CitationsSource
Apr 14, 2011·Journal of Ophthalmology1.45
#1Kristina Narfström (MU: University of Missouri)H-Index: 27
#2Koren Holland DeckmanH-Index: 4
Last. Marilyn Menotti-RaymondH-Index: 33
view all 3 authors...
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 pro...
18 CitationsSource
Mar 1, 2011·Comptes Rendus Biologies1.90
#1Jean-Denis Vigne (CNRS: Centre national de la recherche scientifique)H-Index: 40
Abstract This article aims to summarize the present archaeo(zoo)logical knowledge and reflections on the origins of Neolithic animal domestication. It targets the main characteristics of early Neolithic animal domestication set against a backdrop of two complementary scales, namely the global and macro-regional scales (the latter using the example of the Near East). It discusses the conceptual and methodological issues, arguing in favor of an anthropozoological approach taking into account the i...
188 CitationsSource
Nov 4, 2010·Human Gene Therapy4.27
#1Eyal Banin (HUJI: Hebrew University of Jerusalem)H-Index: 49
#2Dikla Bandah-RozenfeldH-Index: 8
Last. Dror SharonH-Index: 38
view all 15 authors...
Abstract The history of the North African Jewish community is ancient and complicated with a number of immigration waves and persecutions dramatically affecting its population size. A decade-long process in Israel of clinical-molecular screening of North African Jews with incurable autosomal recessive blindness led to the identification of a homozygous splicing mutation (c.95-2A > T; IVS2-2A > T) in RPE65, the gene encoding the isomerase that catalyzes a key step in the retinoid-visual cycle, in...
76 CitationsSource
1234
Cited By14
Newest
Mar 30, 2021·Scientific Reports4.00
#1Alana Rodney (MU: University of Missouri)H-Index: 1
#2Reuben M. Buckley (MU: University of Missouri)H-Index: 7
Last. Wesley C. Warren (MU: University of Missouri)H-Index: 72
view all 14 authors...
Over 94 million domestic cats are susceptible to cancers and other common and rare diseases. Whole exome sequencing (WES) is a proven strategy to study these disease-causing variants. Presented is a 35.7 Mb exome capture design based on the annotated Felis_catus_9.0 genome assembly, covering 201,683 regions of the cat genome. Whole exome sequencing was conducted on 41 cats with known and unknown genetic diseases and traits, of which ten cats had matching whole genome sequence (WGS) data availabl...
Source
Retinal degenerations comprise a large heterogeneous class of diseases (dystrophies) of retina leading to a progressive vision loss. The emergence of new experimental therapies (gene and cell therapy, regenerative ophthalmic surgery) generates a demand for new experimental models. The review tackles various animal models of human retinal degenerative diseases. Pros and contras of induced and genetic experimental models are highlighted. An adequate experimental model choice may condition a pathog...
Source
Jan 1, 2021·Journal of Veterinary Behavior1.94
#1Ana Martos Martinez-Caja (UGent: Ghent University)H-Index: 1
#2Julie Rosseau (UGent: Ghent University)
Last. Christel Moons (UGent: Ghent University)H-Index: 17
view all 4 authors...
Abstract The Bengal cat is a recently established hybrid cat breed that was created by crossbreeding the domestic shorthair cat (Felis silvestris catus) and the wild Asian leopard cat (Prionailurus bengalensis). In spite of its popularity, research on behavior and health issues in this breed remains limited. A questionnaire was sent to Bengal cat owners in Flanders and Wallonia (Belgium) and the Netherlands to document the suitability of the breed as a pet from the point of view of the owners by...
Source
Aug 14, 2020·BMC Veterinary Research1.83
#1Natalia Kucharczyk
#2Anna Cislo-PakulukH-Index: 1
Last. Peter G. C. Bedford (RVC: Royal Veterinary College)H-Index: 7
view all 4 authors...
This paper reports the significant prevalence of a presumed hereditary cataract in the Bengal cat breed in Poland. The nuclear part of the lens is affected and previous reports from Sweden and France for this type of feline cataract suggest that a recessive mode of inheritance is probably involved. Presumed congenital or neonatal cataract involving the posterior nuclear part of each lens was initially diagnosed in a 12 month old male Bengal cat. As both parents and a sibling were also affected w...
Source
Jun 4, 2020·American Journal of Human Genetics10.50
#1Benjamin Cogné (University of Nantes)H-Index: 16
#1Benjamin Cogné (University of Nantes)H-Index: 9
Last. Bertrand Isidor (University of Nantes)H-Index: 24
view all 77 authors...
Kinesin-2 enables ciliary assembly and maintenance as an anterograde intraflagellar transport (IFT) motor. Molecular motor activity is driven by a heterotrimeric complex comprised of KIF3A and KIF3B or KIF3C plus one non-motor subunit, KIFAP3. Using exome sequencing, we identified heterozygous KIF3B variants in two unrelated families with hallmark ciliopathy phenotypes. In the first family, the proband presents with hepatic fibrosis, retinitis pigmentosa, and postaxial polydactyly; he harbors a ...
9 CitationsSource
Jun 2, 2020·bioRxiv
#1Alana Rodney (MU: University of Missouri)H-Index: 1
#2Reuben M. Buckley (MU: University of Missouri)H-Index: 7
Last. Wesley C. Warren (MU: University of Missouri)H-Index: 72
view all 10 authors...
Over 94 million domestic cats are considered pets, who, as our companions, are also susceptible to cancers, common and rare diseases. Whole exome sequencing (WES) is a cost-effective strategy to study their putative disease-causing variants. Presented is ~35.8 Mb exome capture design based on the annotated Felis_catus_9.0 genome assembly, covering 201,683 regions of the cat genome. WES was conducted on 41 cats from various breeds with known and unknown diseases and traits, including 10 cats with...
1 CitationsSource
Dec 1, 2019·Korean Journal of Ophthalmology
#1Gwang Myeong Noh (Kosin University)H-Index: 2
#2Jae Wan LimH-Index: 2
Last. Sang Joon Lee (Kosin University)H-Index: 11
view all 5 authors...
PURPOSE: We investigated structural changes in the retina by using optical coherence tomography (OCT) in a feline model of retinal degeneration using iodoacetic acid (IAA). METHODS: We examined 22 eyes of 11 felines over 2 years of age. The felines had fasted for 12 hours and were intravenously injected with IAA 20 mg/kg of body weight. OCT (Spectralis OCT) was performed at the point where the ends of the retinal vessels collected in the lateral direction from the optic nerve head and area centr...
Source
Dec 1, 2019·Journal of The Korean Ophthalmological Society
#1Changzoo Kim (Kosin University)
#3Seung Uk Lee (Kosin University)H-Index: 6
Last. Sang Joon Lee (Kosin University)H-Index: 11
view all 4 authors...
Source
Jan 1, 2019·Advances in Experimental Medicine and Biology2.45
#1Freya M. Mowat (North Carolina State University College of Veterinary Medicine)H-Index: 12
The ability to noninvasively monitor retinal abnormalities using imaging and cognitive and electrophysiological assessment has made it possible to carefully characterize genetic influences on retinal health. Because genetic retinal traits in animal species are not commonly detrimental to survival beyond birth, it is possible to document the natural history of retinal disease. Human quality of life is greatly impacted by retinal disease, and blindness carries a significant financial burden to soc...
Source
May 1, 2018·Veterinary Ophthalmology1.10
#1Alejandro Barriga-Rivera (UNSW: University of New South Wales)H-Index: 7
#2Veronica Tatarinoff (USYD: University of Sydney)H-Index: 2
Last. Gregg J. Suaning (USYD: University of Sydney)H-Index: 27
view all 5 authors...
Electrical stimulation of excitable cells provides therapeutic benefits for a variety of medical conditions, including restoration of partial vision to those blinded via some types of retinal degeneration. To improve visual percepts elicited by the current technology, researchers are conducting acute electrophysiology experiments, mainly in cats. However, the rat can provide a model of a range of retinal diseases and possesses a sufficiently large eye to be used in this field. This article prese...
3 CitationsSource
12