Disease overview

Early retinal degeneration is characterized by abnormal development of the rod and cones and the subsequent breakdown of the retina, which is a part of the eye essential for vision. This is a progressive, non-painful disease that affects both types of photoreceptors: rods and cones. Rod cells are responsible for vision in low light conditions and for detecting and following movement, while cone cells detect color and adjust brightness, but do not work as well in low light.

Gene name

STK38L

Inheritance

Autosomal recessive

Signs and symptoms

Early retinal degeneration presents around 3 to 10 weeks of age. Signs of vision loss tend to progress rapidly at first and may include cautious movements and an increased tendency to bump into objects. After 6 months of age, signs of the disease present more slowly. Complete blindness is typical by 12 to 18 months of age.

How is it diagnosed

Thorough examination of the eyes and clinical signs. A veterinary ophthalmologic exam can determine if there are changes in the eye that have or will lead to vision loss. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

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Citations

Goldstein O, Kukekova AV, Aguirre GD, Acland GM. Exonic SINE insertion in STK38L causes canine early retinal degeneration (erd). Genomics. 2010 Dec;96(6):362-8. doi: 10.1016/j.ygeno.2010.09.003. Epub 2010 Sep 29. PMID: 20887780; PMCID: PMC2996878.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.