Blind and Visually Impaired Community
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Question on Retinitis Pigmentosa inheritance (self.Blind)
submitted by ugly-olive
Sorry, not sure where else to post this question. The RP sub is pretty inactive:
I (36M)was recently diagnosed with Retinitis Pigmentosa by my ophthalmologist. I have not yet done genetic profiling, but I suspect that I inherited RP through an autosomal dominant pattern, based on the symptoms that that pattern usually presents (as described $1). Based on this, the dominant pattern usually means vision loss in late adulthood, which is exactly what’s happening to me.
My wife and I are trying to conceive, but we are now concerned about our child inheriting RP, especially if there is a risk that they will inherit a more severe form with onset signs at childhood.
Assuming my RP is through autosomal dominant, I know there is basically a 50/50 chance that my child will inherit it too. But does that mean that our child can only inherit the same “type” of RP that I have, or is it also possible that it will be more severe with vision loss starting earlier in childhood?
I (36M)was recently diagnosed with Retinitis Pigmentosa by my ophthalmologist. I have not yet done genetic profiling, but I suspect that I inherited RP through an autosomal dominant pattern, based on the symptoms that that pattern usually presents (as described $1). Based on this, the dominant pattern usually means vision loss in late adulthood, which is exactly what’s happening to me.
My wife and I are trying to conceive, but we are now concerned about our child inheriting RP, especially if there is a risk that they will inherit a more severe form with onset signs at childhood.
Assuming my RP is through autosomal dominant, I know there is basically a 50/50 chance that my child will inherit it too. But does that mean that our child can only inherit the same “type” of RP that I have, or is it also possible that it will be more severe with vision loss starting earlier in childhood?
JackEsq 4 points 2y ago
You should get a genetic test and talk to a genetic counselor about the inheritance pattern. If you are in the US you can do it through $1.
Did either of your biological parents have RP? If not then it is unlikely to be dominant unless it is a brand new mutation.
Did either of your biological parents have RP? If not then it is unlikely to be dominant unless it is a brand new mutation.
AchooCashew 3 points 2y ago
Can you please explain further about the specific steps needed to obtain genetic testing? I have been referred (and have signed up) for MRT before but can't figure out how to proceed to get the actual testing. Thank you so much for your patience.
JackEsq 2 points 2y ago
My daughter was tested through the program I mentioned, so my experience would be specific to that, but it is only for Inherited retinal diseases and other causes of blindness might not qualify. The company doing the testing needed a doctor's order and a blood draw. It was difficult to get a blood draw since she was around 1 year old at the time. I was able to get one from the local children's hospital and then sent in the vials. My daughter already had a clinical diagnosis of LCA so the company did their panel for LCA, which is around 20 genes (as opposed to RP which has 200+). At the time it was completely free, but I'm not sure if they still have funding for that.
We were also going through a genetic counselor who ordered the test but we would have to have paid or gone through insurance.
We were also going through a genetic counselor who ordered the test but we would have to have paid or gone through insurance.
ugly-olive [OP] 2 points 2y ago
Thank you so much. We’re in Canada, and I’m currently looking into genetic testing options. My mother does not have it, or at least has not presented any signs. She is 63 w no major vision issues. Unfortunately, my dad passed away a while ago and I wasn’t really in contact w him or that side of the family. He certainly didn’t have vision issues early in his life, but he may have had RP signs later in adulthood. I really don’t know for sure.
JackEsq 3 points 2y ago
Got it, so the only way to know would be to get genetic testing. Your child can only inherit the same “type” but my understanding is the symptoms can still vary even within the same type.
ugly-olive [OP] 1 points 2y ago
That’s what I suspect too. But as you mention, genetic testing would probably give me a clearer idea. Thx for your advice
kissitallgoodbye 1 points 2y ago
If it helps I'm in the similar situation to you. I love in Canada and have no family with this condition either. I do have a child and he's been getting tested since he was 6 months old, no signs of it yet and honestly based on where science was when I got diagnosed versus now even if our children do inherit it it's not going to be as much of an impediment as it is for us
ugly-olive [OP] 1 points 2y ago
Thanks! That’s really good to know re: testing for our kids. A good point as well that treatment options will be better for the next generation
kissitallgoodbye 1 points 2y ago
He's been getting tested at the optometrist, I mean. Getting his eyes checked. Sorry. Usually kids don't need to go in until they're 4/5 but my Dr had me start bringing him at 6 mos because I didn't catch mine until my early 20s
True_Candyman 2 points 2y ago
Hey OP, I just got diagnosed with RP myself (28M).
One other thing to look into would be gene therapy. It's something I'm trying to get into trials for at the mo, but eligibility depends on what the exact genetic cause of your RP is.
I don't yet fully understand how gene therapy plays into genetic inheritance, but that may be a path to look into (presuming therapy is an option before having kids).
And even if your kids do get it, a couple of decades down the line these therapies will be further advanced and likely more readily available to them. Get them tested young and regular to avoid symptoms deteriorating their eyesight too far and they can still retain a very good level of eyesight.
One other thing to look into would be gene therapy. It's something I'm trying to get into trials for at the mo, but eligibility depends on what the exact genetic cause of your RP is.
I don't yet fully understand how gene therapy plays into genetic inheritance, but that may be a path to look into (presuming therapy is an option before having kids).
And even if your kids do get it, a couple of decades down the line these therapies will be further advanced and likely more readily available to them. Get them tested young and regular to avoid symptoms deteriorating their eyesight too far and they can still retain a very good level of eyesight.
Revenant624 2 points 2y ago
I am not a doctor, all I can do is tell you my situation. I have RP and I inherited from my mother who did not have it. Several of my mothers sisters had children with RP as well.. none of them actually had our P with exception to the brother and he did not have children. Now fast forward to all of those in my family that does have our P all of our children have shown zero signs of RP. Not sure if the gene has been killed off or more possibly our children’s children could get it. So having a child you might be OK, like I said before I’m not a doctor.
[deleted] 1 points 2y ago
[deleted]
ugly-olive [OP] 2 points 2y ago
Thank you so much for this. Im truly touched. I’m still processing my diagnosis (and the potential grim prognosis), so it helps to hear these thoughtful and inspiring words. My ophthalmologist actually thinks I have Usher’s Syndrome too since I also have hearing loss in one ear (and wear a hearing aid). So your words re: passing down Usher’s make me hopeful. Thanks again :)
meeowth 1 points 2y ago
Generally you expect to get RP from your mother (with the typical x-linked type, you literally can't get it from your father since he gives you his y gene), but as you say, only a genetic test will confirm if you have that or one of the many other types.
General-Illustrator2 1 points 1y ago
My father has RP so does that mean I would have a 0% chance of inheriting it or do I have the 50% because he had a dominant gene?
meeowth 1 points 1y ago
It depends on if it's in his X gene or not, since fathers don't give X genes to their sons. If he hasn't had his genes tested you would have to make guesses based on if anyone else in the family has it
Wing-Sung 1 points 9m ago
What if my father and 1 of his 2 older sisters have it?
meeowth 1 points 9m ago
Slightly more likely to not be x-linked
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