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Early Retinal Degeneration (STK38L gene, Norwegian Elkhound)

Early Retinal Degeneration (STK38L gene, Norwegian Elkhound)

Early retinal degeneration (ARD) is caused by a mutation in the STK38L gene and is characterized by a defect in the development and function of photoreceptor cells, leading to vision loss and, ultimately, blindness.

Symptoms

Dogs affected by RPD experience a reduction in overall visual ability, which becomes evident between 3 and 10 weeks of age. As the disease progresses, dogs may suffer blindness and even cataracts. Disease progression is rapid at onset, but slows in dogs older than 6 months.

Disease Management

Currently, there is no cure for early retinal degeneration, however, early detection of the disease through regular eye examinations is helpful in managing and delaying its progression. It is essential to create a safe and secure environment for the dog and to work in collaboration with a veterinarian to ensure ongoing care and monitoring.

Genetic basis

This disease follows an autosomal recessive mode of inheritance. Autosomal recessive inheritance means that the dog, regardless of sex, must receive two copies of the mutation or pathogenic variant to be at risk of developing the disease. Both parents of an affected dog must carry at least one copy of the mutation. Animals with only one copy of the mutation are not at increased risk of developing the disease, but may pass the mutation on to future generations. Breeding between dogs carrying genetic variants that can cause disease, even if they do not show symptoms, is not recommended.

Technical report

Early retinal degeneration is characterized by abnormal development of photoreceptor cells, as well as problems in the synapses between them and their subsequent degeneration. A causal mutation has been identified in the STK38L gene, which encodes a protein kinase involved in the development and morphology of neuronal cells. The mutation involved in the development of RPD is an insertion that causes the absence of exon 4 of the gene, and as a consequence, a truncated protein that loses its functionality is obtained.

Most affected breeds

Norwegian Elkhound

Bibliography

Goldstein O, Kukekova AV, Aguirre GD,et al. Exonic SINE insertion in STK38L causes canine early retinal degeneration (erd). Genomics. 2010 Dec;96(6):362-8.