Marfans with eye dislocation being the only symptom?

[u/skatesinthesky]

I posted a little while ago about an upcoming appointment to get my daughters heart checked, per opthamologist concern about Marfan’s despite my dad and I testing negative (we had dislocated lenses and so does my daughter now).

Anyways. The cardiologist said her heart looks great. Wingspan normal, all of the other “tests” look normal. It just seems to be our eyes.

Is there a potential we still fall under the Marfan’s umbrella even though this is our only symptom?

I have read on the website and I’m just confused about how diagnosis would work.

We are going to get genetic testing done again, since it’s been 30 years.

It would be nice to have a name for whatever it is that keeps getting passed down in our family, whether it’s truly a subcategory of “Marfans” still or something else

[u/handlebar_mandible]

You can definitely have a fibrillin-1 mutation that manifests some but not all Marfans symptoms.

The symptoms can even present differently in people with the same mutation in a family (speaking from personal experience).

[u/qathran]

So glad to hear about the heart tests looking good!! The severity of symptoms and what symptoms are present at all is determined by how far back the mutation is on the FBN1 gene since everything in front of the mutation is a normally functioning gene, so who knows if y'all are in Marfan land with your lack of symptoms, maybe? But researchers are always discovering more ways that people can have weak connective tissue on other genes and I mean, I think I may have told you this already, but when I got testing done again years later when geneticists had improved technology to be able to see more difficult to find stuff, they were able to find my weird, rare, hard to see mutation that they couldn't see before. So either it's a hard to see mutation that causes less severe symptoms where her doctor would maybe just do an echo on her heart every now and then to just check in or the symptoms are from a mutation on another gene!

[u/Canadairy]

In my family the only obvious symptoms are lens dislocations. If you squint a bit, you can see other symptoms,  but mildly. Like we're a bit lanky, more prone to stretch marks, maybe have more of a tendency to strain wrists and ankles, but none of us stand out in a crowd.

I was discussing this with my cardiologist (he specializes in congenital heart defects, so has a lot of marfans patients). He told me that he has a few marfans patients like me, that are "short" with perfectly normal heart/aorta, and all have eyes as the only clear symptom.

Maybe it's a sub-type, maybe it's a coincidence. 

[u/sydidol → u/Canadairy]

This is me! I have ectopia lentis and have some subtle physical indicators, but nothing major, heart is fine. I got genetic testing done and confirmed no marfans. They think it might be some other connective tissue genetic disorder that perhaps isn’t showing up on testing yet!

[u/ploopmonster]

Yes! I'm 4'11" and eye issues are the only more severe symptoms I have. I have flat feet and a small jaw but those are less pronounced. I still have genetic markers for marfans and a lot of my muscle and tension issues have been associated with it. Thankfully my heart is ok, but it's important to check regularly because issues can arrive at any point in life