Early Retinal Degeneration

General Information: Early Retinal Degeneration (ERD) is a hereditary eye condition affecting dogs, typically presenting between 3 to 10 weeks of age. Affected puppies show signs of poor vision and night blindness, often moving more cautiously than their littermates and frequently bumping into objects. This disease is caused by abnormal development and subsequent degeneration of the retina's photoreceptor cells, including rods and cones, which are essential for detecting light and transmitting visual information to the brain. ERD progresses rapidly initially but slows after the puppies reach 6 months of age. Most affected dogs are completely blind by 12 to 18 months. Additionally, between 4 to 5 years of age, these dogs often develop cataracts, further complicating their vision problems. Early detection and understanding of this condition are crucial for managing the quality of life for affected dogs.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for the STK38L gene is crucial for identifying carriers of the mutation responsible for Early Retinal Degeneration (ERD) in dogs. ERD is inherited in an autosomal recessive manner, which means that a dog must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carrier dogs, with only one copy of the mutation, generally do not exhibit symptoms but can pass the mutation on to their offspring. When two carriers are bred, each puppy has a 25% chance of developing ERD and a 50% chance of being a carrier. Reliable genetic testing is essential for responsible breeding practices to prevent mating two carriers, thereby reducing the risk of producing puppies with ERD. By ensuring that only non-carrier dogs are bred, breeders can help eliminate this debilitating condition from dog populations, leading to healthier and more robust future generations. It is important to note that while a normal result for the STK38L gene reduces the risk of ERD, it does not rule out other forms of retinal degeneration caused by different genetic mutations, underscoring the need for comprehensive genetic screening.