Retinal atrophy, early retinal degeneration (ERD)

Gène: STK38L

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, duplication, STK38L gene; c.186 ins.229pb (SINE), dup.15pb, exon4

Medical system: Ocular

Breeds: Norwegian Elkhound

Age at onset of clinical signs: Between 3 and 10 weeks of age.

Early retinal degeneration in Norwegian Elkhounds is a hereditary disease in which the cones and rods, the photoreceptors of the retina, are affected. From their first weeks of life, puppies have poor daytime vision and are blind in the dark. They move more slowly and cautiously than other puppies but will still bump into objects around them more often. The disease progresses rapidly in the first few months of life, slowing down around 6 months of age. Dogs are generally blind by 18 months, and cataracts can develop by 5 years of age.

References:

OMIA link: [1297-9615]

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]

Palanova A. (2016) The genetics of inherited retinal disorders in dogs: implications for diagnosis and management.  Vet Med (Auckl). 7:41-51. [pubmed/30050836]

Berta ÁI, Boesze-Battaglia K, Genini S, Goldstein O, et.al. (2011) Photoreceptor cell death, proliferation and formation of hybrid rod/S-cone photoreceptors in the degenerating STK38L mutant retina. PLoS One 6(9):e24074. [pubmed/21980341]

Goldstein O, Kukekova AV, Aguirre GD, Acland GM. (2010) Exonic SINE insertrion in STK38L causes canine early retinal degeneration (erd). Genomics 96:362-368. [pubmed/20887780]

Acland GM, Aguirre GD. (1987) Retinal degenerations in the dog: IV. Early retinal degeneration (erd) in Norwegian elkhounds. Exp Eye Res. 44(4):491-521. [pubmed/3496233]