Ron Ofri1, Christopher M Reilly2, David J Maggs3, Paul G Fitzgerald4, Yael Shilo-Benjamini5, Kathryn L Good3, Robert A Grahn6, Danielle D Splawski6, Leslie A Lyons7. 1. Koret School of Veterinary Medicine, Hebrew University of Jerusalem, Israel. 2. Department of Pathology, Microbiology, and Immunology, School of Veterinary Medicine, University of California-Davis, Davis, California, United States. 3. Department of Surgical and Radiological Sciences, School of Veterinary Medicine, University of California-Davis, Davis, California, United States. 4. Department of Cell Biology and Human Anatomy, School of Medicine, University of California-Davis, Davis, California, United States. 5. Koret School of Veterinary Medicine, Hebrew University of Jerusalem, Israel 3Department of Surgical and Radiological Sciences, School of Veterinary Medicine, University of California-Davis, Davis, California, United States. 6. Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, California, United States. 7. Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, California, United States 6Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri-Columb.
Abstract
PURPOSE: A form of retinal degeneration suspected to be hereditary was discovered in a family of Bengal cats. A breeding colony was established to characterize disease progression clinically, electrophysiologically, and morphologically, and to investigate the mode of inheritance. METHODS: Affected and related cats were donated by owners for breeding trials and pedigree analysis. Kittens from test and complementation breedings underwent ophthalmic and neuro-ophthalmic examinations and ERG, and globes were evaluated using light microscopy. RESULTS: Pedigree analysis, along with test and complementation breedings, indicated autosomal recessive inheritance and suggested that this disease is nonallelic to a retinal degeneration found in Persian cats. Mutation analysis confirmed the disease is not caused by CEP290 or CRX variants found predominantly in Abyssinian and Siamese cats. Ophthalmoscopic signs of retinal degeneration were noted at 9 weeks of age and became more noticeable over the next 4 months. Visual deficits were behaviorally evident by 1 year of age. Electroretinogram demonstrated reduced rod and cone function at 7 and 9 weeks of age, respectively. Rod responses were mostly extinguished at 14 weeks of age; cone responses were minimal by 26 weeks. Histologic degeneration was first observed at 8 weeks, evidenced by reduced photoreceptor numbers, then rapid deterioration of the photoreceptor layer and, subsequently, severe outer retinal degeneration. CONCLUSIONS: A recessively inherited primary photoreceptor degeneration was characterized in the Bengal cat. The disease is characterized by early onset, with histologic, ophthalmoscopic, and electrophysiological signs evident by 2 months of age, and rapid progression to blindness.
PURPOSE: A form of retinal degeneration suspected to be hereditary was discovered in a family of Bengal cats. A breeding colony was established to characterize disease progression clinically, electrophysiologically, and morphologically, and to investigate the mode of inheritance. METHODS: Affected and related cats were donated by owners for breeding trials and pedigree analysis. Kittens from test and complementation breedings underwent ophthalmic and neuro-ophthalmic examinations and ERG, and globes were evaluated using light microscopy. RESULTS: Pedigree analysis, along with test and complementation breedings, indicated autosomal recessive inheritance and suggested that this disease is nonallelic to a retinal degeneration found in Persian cats. Mutation analysis confirmed the disease is not caused by CEP290 or CRX variants found predominantly in Abyssinian and Siamese cats. Ophthalmoscopic signs of retinal degeneration were noted at 9 weeks of age and became more noticeable over the next 4 months. Visual deficits were behaviorally evident by 1 year of age. Electroretinogram demonstrated reduced rod and cone function at 7 and 9 weeks of age, respectively. Rod responses were mostly extinguished at 14 weeks of age; cone responses were minimal by 26 weeks. Histologic degeneration was first observed at 8 weeks, evidenced by reduced photoreceptor numbers, then rapid deterioration of the photoreceptor layer and, subsequently, severe outer retinal degeneration. CONCLUSIONS: A recessively inherited primary photoreceptor degeneration was characterized in the Bengal cat. The disease is characterized by early onset, with histologic, ophthalmoscopic, and electrophysiological signs evident by 2 months of age, and rapid progression to blindness.
Authors: Jean-Denis Vigne; François Briois; Antoine Zazzo; George Willcox; Thomas Cucchi; Stéphanie Thiébault; Isabelle Carrère; Yodrik Franel; Régis Touquet; Chloé Martin; Christophe Moreau; Clothilde Comby; Jean Guilaine Journal: Proc Natl Acad Sci U S A Date: 2012-05-07 Impact factor: 11.205
Authors: Eyal Banin; Dikla Bandah-Rozenfeld; Alexey Obolensky; Artur V Cideciyan; Tomas S Aleman; Devora Marks-Ohana; Malka Sela; Sanford Boye; Alexander Sumaroka; Alejandro J Roman; Sharon B Schwartz; William W Hauswirth; Samuel G Jacobson; Itzhak Hemo; Dror Sharon Journal: Hum Gene Ther Date: 2010-11-03 Impact factor: 5.695
Authors: Yasuko Ishida; Victor A David; Eduardo Eizirik; Alejandro A Schäffer; Beena A Neelam; Melody E Roelke; Steven S Hannah; Stephen J O'Brien; Marilyn Menotti-Raymond Journal: Genomics Date: 2006-07-24 Impact factor: 5.736
Authors: Barbara Gandolfi; Hasan Alhaddad; Shannon E K Joslin; Razib Khan; Serina Filler; Gottfried Brem; Leslie A Lyons Journal: Sci Rep Date: 2013 Impact factor: 4.379
Authors: Benjamin Cogné; Xenia Latypova; Lokuliyanage Dona Samudita Senaratne; Ludovic Martin; Daniel C Koboldt; Georgios Kellaris; Lorraine Fievet; Guylène Le Meur; Dominique Caldari; Dominique Debray; Mathilde Nizon; Eirik Frengen; Sara J Bowne; Elizabeth L Cadena; Stephen P Daiger; Kinga M Bujakowska; Eric A Pierce; Michael Gorin; Nicholas Katsanis; Stéphane Bézieau; Simon M Petersen-Jones; Laurence M Occelli; Leslie A Lyons; Laurence Legeai-Mallet; Lori S Sullivan; Erica E Davis; Bertrand Isidor Journal: Am J Hum Genet Date: 2020-05-07 Impact factor: 11.025
Authors: Annie Oh; Jacqueline W Pearce; Barbara Gandolfi; Erica K Creighton; William K Suedmeyer; Michael Selig; Ann P Bosiack; Leilani J Castaner; Rebecca E H Whiting; Ellen B Belknap; Leslie A Lyons Journal: Sci Rep Date: 2017-03-21 Impact factor: 4.379
Authors: Alana R Rodney; Reuben M Buckley; Robert S Fulton; Catrina Fronick; Todd Richmond; Christopher R Helps; Peter Pantke; Dianne J Trent; Karen M Vernau; John S Munday; Andrew C Lewin; Rondo Middleton; Leslie A Lyons; Wesley C Warren Journal: Sci Rep Date: 2021-03-30 Impact factor: 4.379