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retinal degeneration

  1. What is the defect in abetaliproteinemia?
    This defect leads to?
    • inability to transport and absorb lipids secondary absent apoliprotein B
    • inability to absorb fat soluable vit. (DEAK)
  2. What are ophthalmic and systemic findings in abetaliproteinemia?
    • ophthalmic: RP
    • night blindness
    • Systemic: appears like fredrick ataxia
    • acathocystosis in red blood cells
  3. What is the defect in Refusms disease?
    Opthalmic & systemic findings?
    Treatment?
    • defect-Phytanic acid
    • systemic-polyneurapathy
    • deathness
    • MR
    • treatment-no animal products, milk, green veggies
  4. Which mucopolysaccharidoses had retina findings?
    • Those with heparin sulfate stored
    • Hurlers AR
    • Scheie-AR
    • Hunter- x-linked
    • Sanfilippo-AR
  5. Spingolipidoses with cherry red spot
    • Tay- Sachs
    • Sandhoffs
    • Nieman Pick- Macular halo
    • Gauchers Dz
  6. Spingolipidoses with NO cherry red spot
    Inheritance
    Corneal finding
    • Fabry's- X-linked dominant- corneal verticillata
    • Krabbe's
  7. Ophthalmic features of Kearns-Sayre Syndrome
    • Ophthalmoplegia
    • Heart block
    • Pigmentary Retinopathy
  8. What is the characteristic muscle biopsy of Kearns-Sayre?
    ragged-red fibers
  9. Inheritance of Kearns-Sayre
    Mitochondrial
  10. Drugs causing retinal changes
    • Chloroquine
    • Chlorpromazine
    • Thioridazine -severe retinopathy
  11. Crystalline Retinopathy
    Drug induced
    O
    • cmentt
    • canthoxanthine
    • methoxyflurane
    • ethylene glycol
    • nitrofuratonin
    • talc
    • tamoxifen
  12. Med causing loss of night vision
    • dersferrixamine
    • isotretinoin
  13. HIV med causing causing uveitis/hypopyon
    Rifabutin
Author
angelletta
ID
112703
Card Set
retinal degeneration
Description
Retinal Degeneration with Systemic Associations
Updated

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