Something that has been worrying me...[about blindness]?

Question

Ok, I'll try and keep this as short and a least complicated as I can...

Just before I was born my Mum developed Retinitis Pigmentosa - Macular Degeneration.

After 8 years she became completely blind not even being able to tell light from dark.

Recently my Dad was talking to someone about my Mums blindness and mentioned that the doctors had thought it had been genetic but neither of my mothers parents are blind or short sighted.

This got me thinking, and worrying if it could get passed on to me. On my grandmothers side, there is no-one who had any problems with there sight, however, my grandfathers parents died when he was very young so nothing is known about there past.

Is there a chance it could have skipped a generation? Could it be to do with being female? Or was it just a rare case?

Please let me know any of your thoughts, I'm not sure whether to bring it up with my parents especially if there's no chance as it's a bit of a touchy subject and I don't want to upset them.

Answer 1

Retinitis Pigmentosa (RP) has several inheritance patterns. including autosomal dominant, autosomal recessive, and X-linked.  Without knowing more about your family tree, and the prevelance of RP in your family, it is difficult to know your risk for the disease.  

Your options are:

1) Do nothing.  There is no known treatment for RP (except for a few rare forms.)  Even if you knew that you had a gene for RP, there is no effective treatment or prevention.

2) Ask your parents to take you to an eye doctor for an eye exam.

Answer 2

You should definitely discuss your concerns with your parents. Some eye related diseases and disorders can be hereditary, and some age related. Because of the family history you should have a full eye exam and ask the doctor if you are at risk for any of these problems.

Answer 3

There are over a dozen different kinds of Retinitis Pigmentosa.  All are genetic, some are recessive, some are dominant.  Sometimes a person inherits the bad genes, other times it is a spontaneous mutation and they are the first person affected.

There are tests that you can have to see if you carry the gene and if you are likely to develop the condition.   Please speak to your parents if you are concerned; they shouldn't be upset, they should be willing to help you ease your worry.  If you are in Canada, the Hospital for Sick Children in Toronto has a eye disease genetic counseling department and your family doctor or eye doctor can arrange for you to be seen there.