Progressive Retinal Atrophy (BBS2 type)
Another form of PRA affecting Shetland Sheepdogs
This is another form of PRA affecting Shetland Sheepdogs, the disease is caused by a mutation in the BBS2 gene. This novel form of PRA, is unusual because it is expressed together with other characteristics including a wavy, atypical textured coat, upturned nose and dental defects. Scientist also believe that the disease may also cause kidney abnormalities and obesity due to an enhanced motivation for food, but further studies are required to confirm this.
The age of onset of this form of PRA is variable. Dogs which are homozygous for the BBS2 mutation will almost certainly develop PRA during their lifetime and may also display some or all of the other characteristics associated with the syndrome.
Please note that in Shetland Sheepdog there is another PRA variant which can also cause Progressive Retinal Atrophy, it is called Progressive Retinal Atrophy (CNGA1 PRA) , and both tests are recommended for genetic PRA analysis in this breed.