Retinal atrophy, progressive (MERTK related)

Gene: MERTK

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Insertion, MERTK gene; insertion 6,4 kb LINE-1 sequence in the MERTK gene

Medical system: Oculaire

Breeds: Australian Cattle Dog, Chinese Crested, German Shepherd, Golden Retriever, Samoyed, Siberian Husky, Swedish Lapphund, Swedish Vallhund

References:

OMIA link: [1932-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Genetics Committee of the American College of Veterinary Ophthalmologists. (2021) The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition.  [https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf]

Everson R, Pettitt L, Forman OP, et al. (2017) An intronic LINE-1 insertion in MERTK is strongly associated with retinopathy in Swedish Vallhund dogs. PLoS One 12:e0183021. [pubmed/28813472]