
Testing of cats: Progressive retinal atrophy
Related tests
- Combination Bengal cat b-PRA, PK, rdAc-PRA, genetic of blood group
- Combination Savannah cat Factor XII deficiency + Blood Group DNA test + PK deficiency + Progressive retinal atrophy
Progressive retinal atrophy (PRA) associated with the KIF3B gene
Progressive retinal atrophy (PRA) is a disease characterized by the gradual loss of the retinal lens cells (retina) due to their degeneration or retinal atrophy, which gives the disease its name. PRA leads to glaucoma and subsequent progressive loss of daytime vision. Visual deficits are evident in cats before the age of one year.
In the Bengal cats, Savannah cats and Highlander cats, the disease is caused by a missense mutation c.1000G>A in the KIF3B gene, which encodes a subunit of kinesin, a motor protein important for intracellular transport.
The mode of inheritance of the mutation is autosomal recessive. This means that only individuals who inherit the mutated gene from both parents will develop the disease. Carriers of the mutated gene are clinically healthy but pass the mutation on to their offspring. In the case of a mating between two heterozygous individuals, theoretically 25% of the offspring will be completely healthy, 50% of the offspring will be carriers and 25% of the offspring will inherit the mutated gene from both parents and will therefore be affected by the disease.
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References:
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