RP

My husband, 47, recently went to optometrist. His farsigthedness has improved. During evaluation of visual field, some blind spots were found in right eye, and only few in left eye. He has no problems with night vision or peripheral vision. His sister has been diagnosed with RP at age 40 and still sees quite well during the day. His mother who is 85, started to have vision problems at age 70. She has seen retinal specialist and thought to have had two stokes and now macular degeneration.
What is the likelyhood that my husband's findings are RP? (he is seeing retinal specialist next week)
What would be the mode of inheritance (autosomal dominant, recessive...)?
Is it possible that his mother har RP and not stroke, makular degeneration?
What is the RP prognosis in someone who is asymptomatic at age 47?
Is vitamin A currently the only treatment and is it recommended in every patient with RP?
What are the best centers specializing in RP? (we live in New England)

Thank you for your answers

[Michael J Kutryb, MD]

You would need to talk to a genetic specialist to determine the inheritance.  I would rather not speculate, myself.  It is very possible that he does not have RP and I'm unclear how a retinal specialist is going to make the diagnosis if there were not any retinal findings seen by the optometrist - or were there findings and he did not mention them to you?  In order to clearly make the diagnosis he would need to go to a major university eye center like Massachusetts Eye and Ear Infirmary in Boston, where ERG and EOG testing could be done.  I suppose it is possible his mother had some degree of RP but again that's pure speculation.  There is no treatment for RP but some studies have shown a possible beneficial effect of retinal palmitate supplements and they are usually recommended in appropriate doses.  Continue your research about RP just in case that is the diagnosis.  I have had many patients with RP who have had basically a normal life with just a few visual limitations.  Generally not airline pilots, or brain surgeons but happy, functional people.

MJK MD

[dukey]

I am a molecular biologist and can tell you that RP has an extremely complex inheritance pattern and is a classical polygenic disorder, where many genes can contribute. Most mutations tend to be inherited in a dominant manner. However, many people diagnosed with RP do not even have a family history, which points to its very complex nature. A genetic counsellor may help you, but because of the enormity of genes that are involved, I doubt you will get definitive answers. Surely it's best to pursue an actual diagnosis as the doc suggests.

[dukey]

....sorry just wanted to clarify that ANY mode of inheritance is possible (X-linked, recessive, dominant).

[laramark]

Thank you for your answer. We just recently find out that I am preganant and I am concerned about the baby.
You would expect that if both my husband and his sister has RP, then one of the parents probably has the gene (s). That would probably be his mother, but her symptoms started in her 70s (and she also has diabetic retinopathy), which as much as I understand is unusual for RP.

[AnnaE]

I am very sorry that you have these worries. I had adetached retina; my daughter had two. No on told us that my baby could inherit my condition. Happily . even though she detached before me, she recovered.

I know about RP. My nephew has it. The mds say not connection to the detached retinas.He father was myopic, like me, but no detachments.

I wish the best for all of you.

Anna