ArticleInvestigative ophthalmology & visual science2015
Characterization of an Early-Onset, Autosomal Recessive, Progressive Retinal Degeneration in Bengal Cats.
Article in Investigative ophthalmology & visual science, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 21 citations in OpenAlex.
- Fundoscopy in cats: a practical guide and common findings.Journal of feline medicine and surgery · 2025Review
- Diagnostic Ophthalmology.The Canadian veterinary journal = La revue veterinaire canadienne · 2024Article
- Epidemiology and clinical presentation of feline presumed hereditary or breed-related ocular diseases in France: retrospective study of 129 cats.Journal of feline medicine and surgery · 2022Article
- A domestic cat whole exome sequencing resource for trait discovery.Scientific reports · 2021Article
- Hereditary cataract in the Bengal cat in Poland.BMC veterinary research · 2020Article
- Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.American journal of human genetics · 2020Article
- Analysis of Changes in Retinal Photoreceptors Using Optical Coherence Tomography in a Feline Model of Iodoacetic Acid-induced Retinal Degeneration.Korean journal of ophthalmology : KJO · 2019Article
- Comparison of two sedation protocols for short electroretinography in cats.Journal of feline medicine and surgery · 2018Article
- Early-Onset Progressive Retinal Atrophy Associated with an IQCB1 Variant in African Black-Footed Cats (Felis nigripes).Scientific reports · 2017Article
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
purposeA 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.
methodsAffected 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.
resultsPedigree 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.
conclusionsA 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.
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