Stargardt Disease

eye

Stargardt Disease is a non-painful inherited degenerative disorder of the rod and cone photoreceptor cells of the retina that results in vision loss. Rods affect vision in the dark, or low light, and cones affect vision in light. As the disease progresses, cone function is profoundly abnormal, whereas rod function is better preserved. Vision slowly deteriorates, but some vision seems to remain throughout an affected dog’s lifetime.

  • Signs and symptoms

    Affected dogs may begin to show signs of decreased vision by 1-2 years of age, including reluctance to go down stairs, bumping into door frames or corners, and difficulty fetching toys. But they are more likely to be diagnosed in middle or advancing age when changes within the eye are more apparent.

    Although subtle changes to vision and the retinas may be noted at 1-2 years of age, dogs may not be diagnosed until middle or advanced age when changes are more noticeable.

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  • Diagnosis

    Stargardt Disease is diagnosed by examining the fundus, or back of the eye. It may be difficult to observe any obvious changes to the retina. But as the disease progresses, there will be mottling of the tapetum (a layer of tissue immediately behind the retina) and thinning of the retinal blood vessels. Changes to the back of the eye are bilateral and symmetrical, helping to distinguish Stargardt Disease from other retinal diseases. If the retinas cannot be evaluated due to other abnormalities, a veterinary ophthalmologist can perform electroretinography (ERG), the definitive test, which measures the electrical activity and, thus, the function of the retinas.

  • Treatment

    Currently, there is no widespread treatment for Stargardt Disease; however, gene and stem cell therapies are an evolving field.

  • What to do if your dog is at risk

    Actions

    • Affected dogs may experience a painful sensitivity to light and may squint in bright light.
    • Dog owners can help affected dogs navigate their homes and the outside world by keeping furniture in the same location, ensuring they are on a leash in unfamiliar territory, and training them to understand verbal commands or using scent markers.

  • Genetic Information

    This variant was first identified in the Labrador Retriever.

    Stargardt Disease is inherited in an autosomal recessive manner, meaning a dog must have two copies of the variant to be affected by it.

    Gene names:

    ABCA4 Exon 28 ‐ chr6

    Inheritance type:

    recessive

  • Breeds affected

    This health condition affects the following breeds

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