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Progressive Retinal Atrophy (rdAc) in cats is caused by an autosomal recessive mutation in a gene called "centrosomal protein of 290 kDa" (CEP290).
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
Progressive Retinal Atrophy (rdAc) in cats is caused by an autosomal recessive mutation in a gene called “centrosomal protein of 290 kDa” (CEP290). This gene encodes a protein important for the function of photoreceptor cells in the retina. The mutation leads to progressive retinal degeneration, which ultimately causes vision loss. It is also known as Retinal Degeneration II (RD2) or late-onset photoreceptor degeneration, and is found in many cat breeds.
Clinical features
Cats with this type of blindness are born with normal vision. However, vision degeneration typically begins around seven months of age. The rate of vision loss varies, but most affected cats become completely blind between three and five years old. As the disease progresses, the entire outer segments of the rod cells become damaged. This can lead to the degeneration of individual rod cells or groups of rod cells in patches.
Additional information
References
Pubmed ID: 17507457
Omia ID: 1244