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X-linked progressive retinal atrophy type 1 (XLPRA1)-affected dogs have normal PR morphogenesis, after which progressive rod–cone degeneration develops in the peripheral retina, gradually advancing toward the optic disc.
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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
X-linked progressive retinal atrophy type 1 (XLPRA1)-affected dogs have normal PR morphogenesis, after which progressive rod–cone degeneration develops in the peripheral retina, gradually advancing toward the optic disc.
Clinical features
X-linked retinal degeneration is characterised by initial degeneration of rod photoreceptors, followed by loss of cones and progressive atrophy of the inner retina. Carrier females display a phenotype consistent with random X-chromosome inactivation.
Additional information
Variation in genetic background may alter expression of the disease allele in affected animals, thus accounting for variation in phenotypic expression of the disease.
References
Pubmed ID: 11978759
Omia ID: 831
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