Characterization of an early-onset, autosomal recessive, progressive retinal degeneration in bengal cats

Ron Ofri, Christopher M. Reilly, David J. Maggs, Paul G. Fitzgerald, Yael Shilo-Benjamini, Kathryn L. Good, Robert A. Grahn, Danielle D. Splawski, Leslie A. Lyons*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


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 neuroophthalmic 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.

Original languageAmerican English
Pages (from-to)5299-5308
Number of pages10
JournalInvestigative Ophthalmology and Visual Science
Issue number9
StatePublished - 2015

Bibliographical note

Publisher Copyright:
© 2015 The Association for Research in Vision and Ophthalmology, Inc.


  • Blindness
  • Domestic cat
  • Electroretinogram
  • Heritable
  • PRA
  • Photoreceptor


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