Progressive Retinal Atrophy Sloughi Type (PRA-RCD1A)
Progressive Retinal Atrophy (Sloughi Type), Rod-cone dysplasia 1a, PRA-rcd1a
Progressive Retinal Atrophy (PRA) is a category of disorders where the retinal cells in a dog’s eye degenerate and die, eventually leading to complete blindness. One type of PRA specific to the Sloughi breed is due to a mutation in the PDE6B gene that leads to adult-onset eye disease. Symptoms will typically appear on average around 2-3 years of age. Initial symptoms include vision difficulties in dim light, often referred to as night blindness. As the disease progresses, the affected dog will continue to suffer loss of night vision, which then progresses to visual deficits in brighter light and can eventually lead to total blindness.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop Progressive Retinal Atrophy RCD1A 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 RCD1A but 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 this disease and are likely to develop Progressive Retinal Atrophy RCD1A.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
PDE6B
OFA Accepted
No
Chromosome
Ch. 3
Mutation
91747685-91747686: 8 bp insertion (ins TGAAGTCC)
Publication:
Dekomien G, Runte M, Gödde R, Epplen JT. Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene. Cytogenet Cell Genet. 2000; 90(3-4):261-7. [PubMed: 11124530]