Other names: Progressive Retinal Atrophy, Rod-Cone Dysplasia 4
Affected gene: C17H2orf71 (PCARE)
Inheritance: Autosomal Recessive
Mutation: CanFam3.1 17g.22907394_22907395insG c.3149_3150insC p.(C1051Vfs*90)
OMIA link: 001575-9615

Appropriate breeds for testing: English Setter, Gordon Setter, Setter, Irish Setter, Miniature Poodle, Old Danish Pointing Dog, Standard Poodle,Tibetan Terrier, Japanese Spitz

References:
Djajadiningrat-Laanen SC, Boevé MH, Stades FC, van Oost BA. Familial non-rcd1 generalized retinal degeneration in Irish setters. J Small Anim Pract. 2003 Mar;44(3):113-6. [PubMed: 12653325]
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. Animation Genet. 2013 Apr;44(2):169-77. [PubMed: 22686255]
Downs LM, Hitti R, Pregnolato S, Mellersh CS. Genetic screening for PRA-associated mutations in multiple dog breeds shows that PRA is heterogeneous within and between breeds. Vet Ophthalmol. 2014 Mar;17(2):126-30. [PubMed: 24255994]
Miyadera K, Acland GM, Aguirre GD. Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mom Genome. 2012 Feb; 23(1-2):40-61. [PubMed: 22065099]