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Progressive Retinal Atrophy X-linked Type 1 (XLPRA)

Breeds

Relevance Rating: Unknown, not evaluated or no evidence for test for these breeds

General

Disease Name
Progressive Retinal Atrophy X-linked Type 1 (XLPRA)
Mutation
c.1028_1032del
Test Type
Genetic Disease/Disorder
Details
XL-PRA is a "late-onset" form of PRA, first clinical signs at 3-5 years. May be detectable by an ophthalmologist as early as 5 months. Signs include loss of night vision followed some time later by loss of day vision leading to blindness. Owners report dog's eyes seem to have more "shine" and the dog develops "tunnel vision" and dilated pupils. The X-linked inheritance means the risks of developing the disease effect males and females differently. Females who inherit the defective gene from one parent and a normal gene from another parent (carriers) won't be affected, but may have subtle defects that don't normally impact vision. Male pups who inherit the defective gene from the dams will be effected (there aren't male "carriers") Special breeding advice should be sought, if you are unfamiliar with X-link disease inheritance.
Details 2
XL-PRA is a "late-onset" form of PRA, first clinical signs at 3-5 years. May be detectable by an ophthalmologist as early as 5 months. Signs include loss of night vision followed some time later by loss of day vision leading to blindness. Owners report dog's eyes seem to have more "shine" and the dog develops "tunnel vision" and dilated pupils. The X-linked inheritance means the risks of developing the disease effect males and females differently. Females who inherit the defective gene from one parent and a normal gene from another parent (carriers) won't be affected, but may have subtle defects that don't normally impact vision. Male pups who inherit the defective gene from the dams will be effected (there aren't male "carriers") Special breeding advice should be sought, if you are unfamiliar with X-link disease inheritance.
Published
Zangerl, B., Zhang, Q., Acland, G.M., Aguirre, G.D. : Characterization of three microsatellite loci linked to the canine RP3 interval. J Hered 93:70-3, 2002. Pubmed reference: 12011183.
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