Golden Retriever Progressive Retinal Atrophy 2 (GR-PRA2)
Progressive Retinal Atrophy, Golden Retriever 2, GR2-PRA
Progressive Retinal Atrophy (PRA) is a category of different progressive conditions leading to retinal atrophy and potential blindness. Golden Retriever Progressive Retinal Atrophy 2 (GR-PRA2) is a late-onset inherited eye disease that typically shows clinical symptoms including retinal degeneration at approximately 5 years of age with variation in the age of onset. Primary clinical signs of the disease include changes in reflectivity and the appearance of a structure behind the retina that can be diagnosed through a veterinary eye exam. Disease progression can include thinning of the retinal blood vessels leading to decreased blood flow to the retina. Dogs affected by GR-PRA2 initially have a loss of vision in dim light (also known as night blindness) followed by loss of peripheral vision with eventual progression to complete blindness in most affected dogs.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop Progressive Retinal Atrophy due to the GR-PRA2 mutation nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Progressive Retinal Atrophy due to the GR-PRA2 mutation but will, if bred, pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with Progressive Retinal Atrophy due to the GR-PRA2 mutation which will likely result in loss of vision in dim light with eventual progression to complete blindness.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
TTC8
Chromosome
Ch. 8
Mutation
G.60090186del (CanFam3.1), Single Nucleotide Deletion (Del A)
Publication:
Downs LM, Wallin-Håkansson B, Bergström T, Mellersh CS. A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever. Canine Genet Epidemiol. 2014 Apr 16;1:4. [PubMed: 26401321]
