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Phenotype: Cats affected with this form of blindness have normal vision at birth, with degeneration first detected at about seven months of age. Vision loss progresses slowly and is variable, with most cats becoming blind at about 3-5 years of age.
Mode of Inheritance: Autosomal recessive
Alleles: N = Normal, rdAc = Progressive retinal atrophy (CEP290 mutation-associated)
Breeds appropriate for testing: Abyssinian, American Curl, American Wirehair, Balinese, Bengal, Colorpoint Shorthair, Cornish Rex, Devon Rex, Javanese, Manx, Munchkin, Ocicat, Oriental Longhair, Oriental Shorthair, Peterbald, Ragdoll, Savannah Cat, Siamese, Singapura, Somali, and Tonkinese. This genetic variant has also been detected in the American Shorthair, European Shorthair, Donskoy, Havana Brown, Highlander, Maine Coon, Pixie-bob, Scottish Fold, Sphynx and Tennessee Rex.
Explanation of Results:
- Cats with N/N genotype do not have CEP290/rdAc progressive retinal atrophy and cannot transmit this progressive retinal atrophy variant to their offspring.
- Cats with N/rdAc genotype do not have CEP290/rdAc progressive retinal atrophy, but are carriers. They will transmit this progressive retinal atrophy variant to 50% of their offspring. Matings between two carriers are predicted to produce 25% kittens affected by this CEP290/rdAc form of progressive retinal atrophy.
- Cats with rdAc/rdAc genotype will have CEP290/rdAc progressive retinal atrophy, an untreatable condition leading to eventual blindness. They will transmit this progressive retinal atrophy variant to all of their offspring.