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Progressive Retinal Atrophy (pd-PRA), also known as Leber Congenital Amaurosis (LCA), or 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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Especificaciones
| Breeds | Británico de pelo corto, Británico de pelo largo, Exótico de pelo corto, Exótico de Pelo Largo, Himalayo, Napoleon, Persa |
|---|---|
| Gene | |
| Chromosome | E1 |
| Mutation | c.577C>T |
| Mode of Inheritance | Autosómico recesivo |
| Organ | |
| Specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Also known as | LCA |
Información específica de la prueba
Progressive Retinal Atrophy (pd-PRA), also known as Leber Congenital Amaurosis (LCA), or 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 is caused by a recessive mutation to the gene AIPL and is observed in the Persian cat.
Características clínicas
Los gatos afectados comienzan a mostrar signos de pérdida de visión, comenzando con reflejos pupilares reducidos, a partir de las dos o tres semanas de edad. La enfermedad es progresiva y, a la edad aproximada de 17 semanas, es probable que los gatos afectados estén casi totalmente ciegos.
Información adicional
Referencias
Pubmed ID: 27030474
Year published: 2016
Omia ID: 1222
Omia variant ID: 1214