Progressive Retinal Atrophy Rod-Cone Dysplasia 4 (PRA-RCD4)
PRA-rcd4, Progressive Retinal Atrophy (rcd4-PRA), RCD4 Progressive Retinal Atrophy
Progressive Retinal Atrophy (PRA) is a category of different progressive conditions related to retinal atrophy that can eventually lead to blindness. Progressive Retinal Atrophy Rod-Cone Dysplasia 4 (PRA-RCD4) is one specific type of PRA that affects several dog breeds. It is an inherited eye disease with a late onset of symptoms that are due to degeneration of both rod and cone cells of the retina. These cells are important for vision in dim and bright light. Most dogs begin to show symptoms of the disease at approximately 7-12 years of age which manifests as difficulty seeing at night (night blindness) and loss of peripheral vision. Although the rate of onset and disease progression can vary by breed, PRA-RCD4 typically results in eventual loss of sight and complete blindness in affected dogs.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop Progressive Retinal Atrophy Rod-Cone Dysplasia 4 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 Rod-Cone Dysplasia 4 and will, if bred, pass the mutation to 50% of their offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with Progressive Retinal Atrophy Rod-Cone Dysplasia 4 which typically results in eventual loss of sight and complete blindness.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
C2orf71
Chromosome
Ch. 17
Mutation
1 bp insertion (ins C)
Publication:
Downs LM, Bell JS, Freeman J, Hartley C, Hayward LJ, Mellersh CS. Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71. Anim Genet. 2013 Apr;44(2):169-77. [PubMed: 22686255]
