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Cat DNA testing illustration

Progressive Retinal Atrophy (pd-PRA) – Cat

Code: K401

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

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.

General information

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.

Specifications

Breeds

British Longhair, Exotic Longhair, Exotic Shorthair, Himalayan, Napoleon, British Shorthair, Persian

Gene

AIPL1

Chromosome

E1

Mutation

c.577C>T

Organ

Sensory organs

Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Autosomal Recessive

Also known as

LCA

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.

References

Pubmed ID: 27030474

Year published: 2016

Omia ID: 1222

Omia variant ID:

Turnaround information

  • 15 working days