Progressive retinal atrophy - X linked

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Progressive retinal atrophy X-linked (XL-PRA) is an autosomal-recessive genetic disease characterised by degeneration of the photoreceptor cells in the retina, eventually leading to complete blindness[1].

This genetic disease has been reported in the Miniature Schnauzer.

Most PRA cases with X-linked mutation are clinically indistinguishable from other forms of PRA.

XL-PRA is a 'late-onset' form of PRA. It usually isn't until dogs are three to five years old that the first clinical signs of disease start to manifest. Initial night blindness in most cases will progress slowly to day blindness also as the cones in the eye that respond to bright light are progressively damaged.

A breed-specific PCR test is available for testing for this condition.

There is no known treatment for this condition and severely affected individual dogs often remain blind.

References

  1. Petit L et al (2012) Restoration of Vision in the pde6β-deficient Dog, a Large Animal Model of Rod-cone Dystrophy. Mol Ther 20(11):2019-2030