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Leber Congenital Amaurosis (LCA), also named Retinal Pigment Epithelial Dystrophy, is an eye disorder that results in the degeneration of the retina, causing degraded vision and ultimately blindness.
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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
Leber Congenital Amaurosis (LCA), also named Retinal Pigment Epithelial Dystrophy, is an eye disorder that results in the degeneration of the retina, causing degraded vision and ultimately blindness. This variant of the disease, which causes Progressive Retinal Atrophy in the Persian cat (pd-PRA), is caused by a recessive mutation to the gene AIPL.
Clinical features
Affected cats begin showing signs of vision loss, starting with reduced pupillary reflexes, as early as two or three weeks of age. The disease is progressive, and by the age of approximately 17 weeks, affected cats are likely to be almost totally blind.
Additional information
References
Pubmed ID: 27030474
Omia ID: 1222
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