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Kaplan Qbank USMLE



Author8 Posts
  #1

What is the most common condition causing hearing and vision (nyctalopia)
impairment? [Hint autosomal recessive]

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Smell the coffee! "Is That an Osler move??"

  #2

REFSUMS DISEASE???

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I hear and I forget. I see and I remember. I do and I understand.
--Confucius

  #3

Refsum is a defect in phytanic acid metabolism.
Si/Sx-peripheral neuropathy, cerebellar ataxia, retinitis pigmentosa,
bone ds., ichthyosis. Good reasonable guess, but thats not it!
[2nd hint: retinitis pigmentosa is involved ]

___________________
Smell the coffee! "Is That an Osler move??"

  #4

usher syndrome
(refsums has nyctalopia due to retinitis pigmentosa and hearing loss too..it is also AR but is very rare)

___________________
I hear and I forget. I see and I remember. I do and I understand.
--Confucius

  #5

GOOD! grin

___________________
Smell the coffee! "Is That an Osler move??"

  #6

would u post here the details about usher syndrome to help me?

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Sincerity and hard work are the keys to success!

  #7

As stated above :autosomal recessive,deafness ,ret. pigmentosa(a form of night blindness

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Smell the coffee! "Is That an Osler move??"

  #8

thanx

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Sincerity and hard work are the keys to success!







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