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Progressive Retinal Atrophy Autosomal Dominant (ADPRA)
Progressive Retinal Atrophy Autosomal Dominant (ADPRA)
  Discussion

Clinical Comments: 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).

  Genetics
Inheritance
AD
OMIA
001346
OMIA Variant
000029
OMIA URL
https://omia.org/OMIA001346/9615/
OMIN
610445
Gene
RHO
Variants
g.5637394G>C; c.11C>G; p.(T4R)
Variants Comments
  Testing
Test Types
dwn_cnd_
Assessments
dwn_cnd_
Assays
dwn_cnd_
Connections
Assessment of visual function and retinal structure following acute light exposure in the light sensitive T4R rhodopsin mutant dog.
Reference - Journal Article
Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff dog breeds.
Reference - Journal Article
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