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• Who's responding?
• Posted: 2008-01-29 15:10:44 By Darran Z
• I have gotten several responses to CNTF Update to my comments but no comment posted. I would ask that if you are trying to post, try responding to this or try a new thread. Maybe yoru post will come through.
  
  Darran

• Re: Who's responding?
• Posted: 2008-02-03 19:26:52 By Denielle C
• Hi Darran. My name is Denielle and i'm new on this,I was just wondering if my children have a 50/ 50 percent chance of having RP?I was just diagnosed with it in Dec 07.The doctor said it was so bad I shouldent drive at all!!I had a hard time seeing at night and stopped driving at night a year ago. My sister who is now 39 has had it since she was a teen.We found out that her daughter who is 20 has it she was diagnosed a year ago.So now we are trying to figure out what kind we have and where its comming from.All that we know is our grandfather had horrible night visionBut our father seems to have no problems and he is 65.
  I recently moved to Charlotte NC. and found a specialist here who wants to test my children who are ages 5,9,13.My nine year old has a appt on Tuesday.
  I was also wondering about a niece who is now 16 but was born deaf well has some hearing but now I heard she is having vision problems.My brother is her father and he doesent speak of any problems with vision and is divorced from her mother.Im just wondering if this could all be somehow linked?
  Denielle

• Re: Re: Who's responding?
• Posted: 2008-02-03 21:33:53 By Darran Z
• Hi Denielle,
  
  Have you searched on "Inheritance Patterns of Retinal degeneration"? There is a really nice article on the FFB site that has this. It explains the common inheritance patterns.
  
  But given you background, two things come to mind: X-linked but then that wouldn't work because X-linked is passed from Fathers to daughters. But you are saying your Grandfather had bad vision, but your father did not. So X-linked wouldn't work in this scenerio given that your Father is your grandfather's son. So, that can be ruled out.
  
  Next would most likely be an Autosomal Dominant form of RP which is the 50/50 chance as you described. Your Father didn't have it likely because of what is called reduced penetrance. In otherwords, he had the RP gene, but didn't experience it due to other genetic factors in the equation and thus, this gene wasn't permitted to express itself. Thus, you get the "skip a generation" type of scenerio.
  
  As far as your brother's daughter is concerned, if she has RP it is likely in your family. But the hearing loss would be something different and thus wouldn't be Usher Syndrome since with Usher, a single gene mutation and always autosomal recessive, will be found. There are too many generations of RP involved that it would rule out any autosomal recessive inheritance modes.
  
  You may wish to ask the specialist you are going to see about seeing a genetic counselor. They would likely to be able to answer your questions and help "map" this out.
  
  Darran

• Re: Re: Re: Who's responding?
• Posted: 2008-02-04 08:53:41 By Denielle C
• Thanks Darran.I will do that.
  I guess my family was never really educated about RP. Even when my sister's daughter found out she had it nobody really tried to figure this out.
  Denielle