Peer-reviewed veterinary case report
Progressive retinal atrophy in Shetland sheepdogs linked to CNGA1
By Wiik, A C et al.·Published in Animal genetics·2015·Department of Basic Sciences and Aquatic Medicine·View original on PubMed →
PetCaseFinder translated the abstract of this peer-reviewed paper into plain English so pet owners can read it. We do not publish original research — every detail traces back to the citation above. How we work →
Original publication title: Progressive retinal atrophy in Shetland sheepdog is associated with a mutation in the CNGA1 gene.
- Species:
- dog
Plain-English summary
A group of Shetland Sheepdogs was found to have progressive retinal atrophy (PRA), a condition that leads to vision loss and can eventually cause blindness. Researchers discovered a specific mutation in the CNGA1 gene that was linked to this condition in one large family of affected Shelties. However, not all dogs with PRA in the study had this mutation, indicating that there may be different genetic causes for the disease. This finding is significant as it is the first time this particular mutation has been identified in dogs with PRA.
People also search for: Shetland sheepdog vision problems · progressive retinal atrophy in dogs · CNGA1 gene mutation in dogs
Abstract
Progressive retinal atrophy (PRA) is the collective name of a class of hereditary retinal dystrophies in the dog and is often described as the equivalent of retinitis pigmentosa in humans. PRA is characterized by visual impairment due to degeneration of the photoreceptors in the retina, usually leading to blindness. PRA has been reported in dogs from more than 100 breeds and can be genetically heterogeneous both between and within breeds. The disease can be subdivided by age at onset and rate of progression. Using genome-wide association with 15 Shetland Sheepdog (Sheltie) cases and 14 controls, we identified a novel PRA locus on CFA13 (Praw  = 8.55 × 10(-7) , Pgenome  = 1.7 × 10(-4) ). CNGA1, which is known to be involved in human cases of retinitis pigmentosa, was located within the associated region and was considered a likely candidate gene. Sequencing of this gene identified a 4-bp deletion in exon 9 (c.1752_1755delAACT), leading to a frameshift and a premature stop codon. The study indicated genetic heterogeneity as the mutation was present in all PRA-affected individuals in one large family of Shelties, whereas some other cases in the studied Sheltie population were not associated with this CNGA1 mutation. To our knowledge, this is the first report of a mutation in CNGA1 causing PRA in dogs.
Find similar cases for your pet
PetCaseFinder finds other peer-reviewed reports of pets with the same symptoms, plus a plain-English summary of what was tried across them.
Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/26202106/