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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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Specifiche

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Also known as

Year Published

Informazioni generali

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.

Caratteristiche cliniche

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.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 27030474

Omia ID: 1222

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