mjl1717 Forum Hero

Topics: 958 Posts: 5,465
| | 06/19/04 - 03:28 PM  
 
   
 
|   #1 |
What is the most common condition causing hearing and vision (nyctalopia) impairment? [Hint autosomal recessive]
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| mash Forum Fanatic
Topics: 147 Posts: 1,326
| | 06/19/04 - 03:54 PM  
 
   
 
|   #2 |
REFSUMS DISEASE???
___________________ I hear and I forget. I see and I remember. I do and I understand. --Confucius
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| mjl1717 Forum Hero

Topics: 958 Posts: 5,465
| | 06/19/04 - 04:25 PM  
 
   
 
|   #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??"
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| mash Forum Fanatic
Topics: 147 Posts: 1,326
| | 06/19/04 - 04:41 PM  
 
   
 
|   #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
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| mjl1717 Forum Hero

Topics: 958 Posts: 5,465
| | 06/19/04 - 04:44 PM  
 
   
 
|   #5 |
GOOD! 
___________________ Smell the coffee! "Is That an Osler move??"
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| mani Forum Guru

Topics: 104 Posts: 1,403
| | 06/19/04 - 04:53 PM  
 
   
 
|   #6 |
would u post here the details about usher syndrome to help me?
___________________ Sincerity and hard work are the keys to success!
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| mjl1717 Forum Hero

Topics: 958 Posts: 5,465
| | 06/19/04 - 05:16 PM  
 
   
 
|   #7 |
As stated above :autosomal recessive,deafness ,ret. pigmentosa(a form of night blindness
___________________ Smell the coffee! "Is That an Osler move??"
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| mani Forum Guru

Topics: 104 Posts: 1,403
| | 06/20/04 - 04:43 PM  
 
   
 
|   #8 |
thanx
___________________ Sincerity and hard work are the keys to success!
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