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Hereditary Retinal Degeneration PRA (CEP290)

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Description:

Breeds Affected: Abbysian, Amercian Curl, American Wirehair, Balinese, Bengal, Shorthiar, Cornbish rex, Javanese, Ocicat, Oriental Shorthair, Siamese, Singapura, Somali and Tonkinese.  

Causes retinal degeneration, an early onset retinal dystrophy.  Affected cats need to be assesed by a qualified Opthalmologist - annual examinations recommended.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

CEP290 on B4

Variant Detected:

IVS50 + 9T>G

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

J Hered. 2007 May-Jun;98(3):211-20

Associated Breed(s):

Abyssinian, American Curl, Balinese, Bengal, Cornish Rex, Javanese, Ocicat, Oriental Short Hair, Peterbald, Siamese, Singapura, Snowshoe, Somali , Tonkinese,
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