genetic disorders NBEO.txt

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genetic disorders NBEO.txt
2015-02-27 19:26:36
genetic disorders NBEO optometry

genetic disorders NBEO optometry
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  1. What is the most common chromosomal defect?
    Trisomy 21, Down's syndrome
  2. What are typical ocular findings in down's syndrome?
    • Glaucoma
    • Strabismus
    • Increased risk for keratoconus
  3. What is trisomy 18 called?
    Edward's syndrome
  4. What are typical signs of edward's syndrome?
    • Rocker-bottom feet
    • Low set ears
    • Wide-set nipples
    • Microphthalmos
    • Sever mental retardation
  5. What is XXY syndrome?
    Kleinfelter's syndrome
  6. What is the most common cause of male primary hypergonadism and gynecomastia?
    Klinefelter's syndrome
  7. What is XO syndrome?
    Turner's syndrome
  8. What are common ocular signs of turner's syndrome?
    • Strabismus
    • Amblyopia
    • Reduced accommodation
    • CI
  9. What are 3 systemic signs of turner's syndrome?
    • Webbing of neck
    • No menses
    • Heart problems
  10. What are 4 systemic autosomal dominant disorders?
    • Neurofibromatosis
    • Marfan's syndrome
    • Huntington's chorea
    • Familial adenomatous polyposis
  11. Which disease is defined by lich nodules and caf? au lait spots?
    Neurofibromatosis type 1
  12. Which type of neurofibromatosis has neurofibromas?
    Type 2
  13. What chromosome is affected with neurofibromatosis?
  14. What chromosome is affected with marfan's disease?
  15. What chromosome is affected with huntington's chorea?
  16. What is huntington's chorea?
    Gradual onset of involuntary muscle movements and dementia
  17. What is the disease associated with multi-focal CHRPEs?
    Familial adenomatous polyposis
  18. What are 4 systemic autosomal recessive diseases of note?
    • Sickle-cell anemia
    • Cystic fibrosis
    • Phenylketonuria
    • Tay sach's disease
  19. What are common ocular pathologies found in sickle-cell anemia?
    • Retinal arteriole occlusion
    • Sea fan proliferative retinopathy
  20. What biochemical is substituted for what in sickle-cell anemia
    VALine is substituted for GLUtamic acid
  21. What is the most common lethal genetic dz among Caucasians?
    Cystic fibrosis
  22. What is an ocular finding in tay sach's disease?
    Cherry red macula
  23. What are signs of fragile X syndrome?
    • Enlarged testicles
    • Long face/ears
    • Autism
  24. What are ocular findings seen in osteogenesis imperfecta?
    • Blue sclera
    • Keratoconus
    • Megalocornea
    • Abnormal collagen synthesis
  25. Name 2 systemic diseases that are mitochondrial disorders?
    • Leber's hereditary optic neuropathy
    • Kearns-sayre syndrome
  26. What are ocular signs seen in kearns-sayre syndrome?
    • Progressive external ophthalmoplegia
    • Salt and pepper retinopathy