Blindness/Visual Impairment/FEVR

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Question
Hello Elayne,

I recently started dating a guy with FEVR and I'm already head over heels. :) He's not blind or anything, but he has a LOT of vision problems due to it. I know it runs in families. What I wanted to know is say I was to marry him, what's the chance of any potential kids we'd have having FEVR too? Is that something to even be concerned about?

Thanks!!
Elise

Answer
If you get married, I would highly recommend that you seek out the advice of a genetic counselor.  FEVR can be caused by mutations in quite a few genes, and can be inherited via every inheritance pattern known.  Our own family's mutation is autosomal dominant, which means a 50/50 chance of inheritance for every child we have, and again for any grandchildren our FEVR-positive children have.  Once you have the gene, expression can be anything from unnoticeable to complete blindness, and can progress at any time. (I have, in fact, met several adults who didn't know they had FEVR until their children were diagnosed, one of whom then suffered a sudden retinal detachment when his disease turned on as an adult.)  If you are dealing with a recessive gene, then your children would only be carriers unless you also had a mutation to match up with it, so your children would not be at risk of going blind but their descendants could be if another mutation came into the family.  There are sex-linked FEVR mutations as well, that are only expressed in boys although mothers can be carriers, similar to color-blindness.

So the first step would be to find out exactly which mutation you are dealing with, and what it's inheritance pattern is.  Then work with a genetic counselor to determine how you want to go forward.  Speaking for myself, knowing what we know now, if we really wanted more children we would probably do IVF with pre-implantation testing and selection, but if we knew the mutation was only recessive, we would just counsel our children accordingly.

Good luck!

Blindness/Visual Impairment

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Elayne Glantzberg

Expertise

I can answer questions related to Familial Exudative Vitreo-Retinopathy (FEVR), as well as more general questions concerning blindness in children.

Experience

I have five family members with Familial Exudative Vitreo-Retinopathy (FEVR), my husband and four of my six children. My husband and my two youngest children are blind, and my two girls are losing vision. We deal closely with Dr. Michael Trese and his associates in Royal Oak, MI, making trips to see him about once a month for somebody to have surgery or an angiogram or some other exam or procedure. I am familiar with much of the research on FEVR, and can research answers to questions I don't know.

Organizations
I am a member of both the NFB and AFB parents' organizations.

Education/Credentials
I have some time in college.

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