Affected Genes: KIF3B
Transmission: Autosomal recessive
Mutation: Felis_catus_9.0 A3 g.26784019C>T c.1000G>A
OMIA Link: 002267-9685
Breeds Recommended for Testing: Bengal

Symptoms:
Cats affected by this progressive retinal atrophy experience a rapid loss of their photoreceptors, leading to progressive blindness. Retinal cell loss begins around 7 weeks of age and progresses to complete vision loss by 1 to 2 years of age.

Reference:
Cogné, B., Latypova, X., Senaratne, L.D.S., Martin, L., Koboldt, D.C., Kellaris, G., Fievet, L., Le Meur, G., Caldari, D., Debray, D., Nizon, M., Frengen, E., Bowne, S.J. : Mutations in the kinesin-2 motor KIF3B cause an autosomal-dominant ciliopathy. Am J Hum Genet 106:893-904, 2020. PubMed reference: 32386558. DOI: 10.1016/j.ajhg.2020.04.005.