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Progressive Retinal Atrophy Autosomal Dominant (ADPRA)

General

Disease Name
Progressive Retinal Atrophy Autosomal Dominant (ADPRA)
Disease Name 2
ADPRA
OMIA
1346
Gene Name
RHO
Mutation
c.11C>G
Mutation 2
p.Thr4Arg
OMIM
610445
Disease Code
ADPRA
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Autosomal Dominant PRA
Details
As detailed by Kijas et al. (2002), vision is normal for the first few months, but by 12-18 months, vision loss is spreading slowly with particular problems for the dog moving between different light levels. Homozygotes (two copies of the abnormal gene) have more severe clinical signs than heterozygotes (one copy of the abnormal gene).
Details 2
From Kijas et al. (2002), rod vision is normal for at least the first few months. But by 12-18 months, degeneration is evident, spreading slowly from a disease focus in one retinal region. In addition, there is an abnormally slow recovery of rod photoreceptor function after exposure to light. Homozygotes have more severe clinical signs than heterozygotes.
Published
Kijas, JW., Miller, BJ., Pearce-Kelling, SE., Aguirre, GD., Acland, GM.: Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff dog breeds. J Hered 94:27-30, 2003. Pubmed reference: 12692159.
Published 2
Iwabe, S., Ying, G.S., Aguirre, G.D., Beltran, W.A. : Assessment of visual function and retinal structure following acute light exposure in the light sensitive T4R rhodopsin mutant dog. Exp Eye Res 146:341-353, 2016. Pubmed reference: 27085210. DOI: 10.1016/j.exer.2016.04.006.
Body/System/Process
Eye
Inheritance
AD
Gene Name Text
rhodopsin
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