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Rod-cone dysplasias are group of recessively inherited diseases with early onset where photoreceptors are disturbed in their normal development and never manage to develop properly.
The progression of rod-cone dystrophy is caused by sequential degeneration of rod and cone photoreceptors.
Retinal development is normal in PRA-RCD1 affected Sloughis until about two weeks of age, at which point photoreceptor development is arrested.
Rod degeneration then occurs gradually from 1 to 5 months of age, followed by cone loss within 1 to 2 years.
Early symptoms of PRA-RCD1 include night blindness and loss of peripheral vision due to progressive rod photoreceptors degeneration.
This phase is followed by cone death and concomitant loss of central day vision.
There is currently no cure for the PRA-RCD1 disease type.
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Associated Breed(s):
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Category:
Genetic Diseases
Severity:
Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.
Gene:
Beta subunit of cGMP phosphodiesterase (PDE6B) gene on chromosome 3
Variant Detected:
a nonsense amber mutation at codon 807 (a G-->A transition converting TGG to TAG
Mode of Inheritance:
Recomended Screening:
Research Citation(s):