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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, Somali , Tonkinese,