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Questions and Answers

Which of the following diseases can result in retinal changes and are considered in the text?

  • Dystrophic changes in the choriocapillaris
  • Mucopolysaccharidosis
  • Areas of geographic atrophy
  • Neuronal ceroid lipofuscinosis (correct)
  • What type of changes were observed in the choriocapillaris?

  • Geographic changes
  • Dystrophic changes (correct)
  • Atrophic changes
  • Peripheral changes
  • Where were the areas of geographic atrophy found?

  • Midperipheral and peripheral fundus (correct)
  • Macula
  • Optic nerve
  • Central fundus
  • What is the mode of inheritance for the defect?

    <p>No mode of inheritance established</p> Signup and view all the answers

    Which of the following diseases are NOT considered in the text?

    <p>Gangliosidosis</p> Signup and view all the answers

    Which retinopathy is characterized by multifocal red or brown tapetal discoloration and no vision loss?

    <p>Swedish Vallhund retinopathy</p> Signup and view all the answers

    What is the prevalence of Swedish Vallhund retinopathy in the breed?

    <p>34.9%</p> Signup and view all the answers

    Which gene is associated with increased levels of mRNA in affected retina of Swedish Vallhunds with retinopathy?

    <p>MERTK</p> Signup and view all the answers

    Which retinopathy is characterized by a rapid nystagmus, reduced PLRs, and accumulation of inclusion bodies in the RPE cells?

    <p>RPE65-mutant retinopathy</p> Signup and view all the answers

    Which retinopathy shows retinal thinning, night blindness, severe daytime vision problems, and a severe reduction in ERG amplitudes in its most advanced stage?

    <p>Swedish Vallhund retinopathy</p> Signup and view all the answers

    Which term is commonly used to describe the retinopathy caused by RPE65 mutation in Briards?

    <p>Congenital stationary night blindness</p> Signup and view all the answers

    What is the main role of RPE65 in the visual cycle?

    <p>To act as a retinoid isomerase</p> Signup and view all the answers

    What is the consequence of a lack of functional RPE65?

    <p>Reduced vision in bright lighting conditions</p> Signup and view all the answers

    Which mutation is most commonly associated with Leber congenital amaurosis in humans?

    <p>RPE65 mutation</p> Signup and view all the answers

    What has been approved as a treatment for Leber congenital amaurosis due to RPE65 mutations in the United States?

    <p>Gene therapy</p> Signup and view all the answers

    Which breed of dog was found to have a missense mutation (c.C1270T; p.Arg424Trp) in the CNGA3 gene causing day blindness?

    <p>German Shepherd Dog</p> Signup and view all the answers

    What amino acid is changed by the missense mutation (c.C1270T; p.Arg424Trp) in the CNGA3 gene in German Shepherd Dogs?

    <p>Arginine</p> Signup and view all the answers

    What type of mutation was found in the Labrador Retrievers with day blindness?

    <p>3 bp deletion</p> Signup and view all the answers

    What amino acid is removed by the 3 bp deletion (c.1931_ 1933delTGG) in the CNGA3 gene in Labrador Retrievers?

    <p>Valine</p> Signup and view all the answers

    In which breed of dog was a recessively inherited congenital stationary night blindness (CSNB) reported?

    <p>Beagles</p> Signup and view all the answers

    Which breed has been reported to have an unusually high frequency of Retinal Pigment Epithelial Dystrophy (RPED)?

    <p>Briards</p> Signup and view all the answers

    What is the initial visual impairment experienced by dogs with RPED?

    <p>Problems seeing stationary objects in brighter light</p> Signup and view all the answers

    Which breed has a breed-related condition consisting of RPED and neurologic dysfunction associated with low circulatory levels of vitamin E?

    <p>English Cocker Spaniels</p> Signup and view all the answers

    What is the recommended oral tocopherol supplementation for English Cocker Spaniels diagnosed with vitamin E deficiency?

    <p>600-900 IU twice daily</p> Signup and view all the answers

    What is the characteristic appearance of retinal lesions in the Chinese Crested Dog with pigmentary chorioretinopathy?

    <p>Darkly pigmented with a light center</p> Signup and view all the answers

    Which gene is responsible for the late-onset retinopathy in Labrador Retrievers?

    <p>ABCA4</p> Signup and view all the answers

    What is the function of ABCA4 in the visual cycle?

    <p>Transport of N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine out of the lumen</p> Signup and view all the answers

    Which subunits make up the cGMP-gated channel in the outer segment cell membrane of cone photoreceptors?

    <p>CNGB3 and CNGA3</p> Signup and view all the answers

    Which breed of dog has the CNGB3 mutation that causes achromatopsia?

    <p>Alaskan Malamute</p> Signup and view all the answers

    What treatment has been successful in restoring cone function in younger dogs with achromatopsia?

    <p>Both gene therapy and CNTF treatment</p> Signup and view all the answers

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