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Wednesday, February 23, 2011

February:Retinitis Pigmentosa

Retinitis Pigmentosa Fact #23

So, I've already told you that RP is a hereditary disease and I listed the different ways the gene can be passed from generation to generation. I found some percentages on the different ways of inheritance. 20-25% of patients get it through autosomal dominant, 15-20% get it through autosomal recessive, 5-10% is X related, and the remaining 45-50% have no known relatives with the mutation. (source)

With this said I now have a question. Why is RP considered a hereditary thing when a majority of patients diagnosed with it have no known relative with the faulty gene? So, I have a question for those of you who read my blog and have been diagnosed with RP or a different kind of degenerative disease. Is your degenerative disease hereditary or are you part of the 50% who have no known traces of it in your family?


  1. My person's retinal dystrophy was also diagnosed as hereditary but nobody in his immediate family has the disease. So what is up with that? I think Doctor's just have to put something. Some people just want to be able to blame something or someone.

  2. Putting my genetics schooling to good use ... :)

    The DNA replication process is amazing, but not perfect. Every once in a while there will be an error - a mutation. If a mutation that causes RP (or any other disease/trait) occurs in the sex cells (egg or sperm) then the baby that results could have RP, even though neither of their parents had the mutation or the disease. However, they could then potentially pass this mutation on to their children.

    Hope that makes some sense!
    Sam and Romero


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