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Retina Dysplasia and/or Optic Nerve Hypoplasia

eye

This variant may cause changes to several tissues of one or both eyes including the complete failure of the tissue to develop, be underdeveloped, abnormally develop, or improperly function.

  • Signs and symptoms

    Affected dogs may have visual impairment which may be observed as being reluctant to go down the stairs, bumping into door frames or corners, taking a longer time to fetch a toy, or displaying behavior concerns. Affected dogs may have abnormalities in one or both eyes including persistent pupillary membranes (PPM), retinal and optic nerve malformations, cataracts, deformed lens, and abnormal eye movement (congenital nystagmus).

    Severe ocular abnormalities may be observed at birth. In milder cases, changes may be observed on ophthalmologic examination at between one to 12 months of age.

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  • Diagnosis

    Affected dogs may have changes observed on a basic eye examination or a more comprehensive exam performed after dilating the pupils. The definitive diagnosis of retinal dysfunction is by electroretinography (ERG), which records the electrical potentials of the retina in response to a light stimulus. Referral to a veterinary ophthalmologist may be needed for a definitive diagnosis.

  • Treatment

    Currently, there is no treatment for this condition.

  • What to do if your dog is at risk

    Actions

    • Careful monitoring by your veterinarian will be required for the rest of your affected dog's life as secondary complications can develop.
    • Help affected dogs navigate their homes and the outside world by keeping your furniture in the same location, adjusting light exposure, making sure they are on a leash when in unfamiliar territory, and training them to understand verbal commands.
    • Most dogs with this condition are euthanized at a young age. You and your veterinarian can discuss the best ways to keep your dog comfortable and monitor their quality of life.

  • Genetic Information

    Please note, several forms of Progressive Retinal Atrophy (PRA) have been identified in Golden Retrievers. Please consult with your veterinarian should you have any concerns about your dog’s eyes or eyesight, even if your dog tested clear for this variant.

    This variant is thought to have an autosomal dominant inheritance with incomplete penetrance, which in this instance means that although only one copy of the variant is needed to cause the disorder, not all dogs with one copy will develop retinal or optic nerve abnormalities.

    Gene names:

    SIX6 Exon 1 ‐ chr

    Inheritance type:

    Dominant

    Citations:

    Hug et al 2019

  • Breeds affected

    This health condition affects the following breeds

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