Ok, I'm seriously stumped. After endless hours of searching and researching, I've found nothing that matches the case of my boyfriend's funky iris.

Basically, he has fairly normal, brown pigmented irises, though if compared to each other they appear to be slightly differing in size and shape. It wasn't until recently, when I took a picture of his unusually dilated pupil (dilated in midday, I may add) that I realized he had a strand of iris fiber stretching across the pupil of his right eye.

I'm not concerned that it's necessarily a disease of his eye. However, I'm concerned it may indicate an underlying problem.

In addition to his perplexing eye problem, he has a mild pectus excavatum (his mother, however, has a pronounced pectus carinatum), corrected full phimosis, possible low bone density (he breaks his bones easily), somewhat disproportionately large head, mild scoliosis, and an as-of-yet identified golf ball sized and very hard (but movable) tumor near his th1 vertebra, which seems to be causing some displacement. Additionally, he has no 'café au lait' birthmarks, and I pick up on an intermittent click murmur, occasionally with what sounds like a quiet late systolic murmur, when I listen to his heart. I don't know if this will help anyone with experience or with similar symptoms but I felt it was necessary to mention as an aside.

The health community where he resides has been little to no help.

If anyone has any input at all, I'd be incredibly grateful.

Your boyfriend has many symptoms of Marfan's Syndrome. Has this been ruled out?

"http://www.nhlbi.nih.gov/health/dci/Diseases/mar/mar_whatis.html"

Your boyfriend has many symptoms of Marfan's Syndrome. Has this been ruled out?

"http://www.nhlbi.nih.gov/health/dci/Diseases/mar/mar_whatis.html"

Unlike me, no. I've seen a couple MDs who've said that I have a 'connective tissue disorder NOS,' despite me and my family looking almost textbook Marfan syndrome (arachnodactyly, kyphosis, scoliosis, pectus excavata, mitral valve prolapse, freakishly tall stature as kids, long faces, overbites and high palettes -- you name it). Apparently I just don't match up the subtleties, though admittedly I haven't had any genetic testing.

As far as my boyfriend, he looks far less Marfanish than I do. though I suppose it's always possible: He's fairly short, has a stocky frame like most of his family, and generally looks a bit like a younger Orlando Bloom, just to give an idea. What I was wondering initially was if he had some mild form of neurofibromatosis, since I see some similarities between him and my friend (NF1 sufferer) or something close to it. The tumor on his back and his somewhat large head were features that made me curious.

I also looked into Ehlers-Danlos syndrome, even though I was doubtful. That definitely doesn't fit--no hypermobility of his limbs, no superhero/Jim Carrey stretching abilities at all. If anything, he's much more stiff than is normal, even compared to Marfan syndrome. I myself have hypermobility/flexibility in my fingers, hips, etc. My only option right now is to assume he would fit into the category I've been placed; 'CTDNOS,' which is a shame, I think.

But what of the freaky pupil fiber? I don't suppose anyone would know a name for such an abnormality.

Thanks for the reply!

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I just wanted to update to say that the mystery seems to be solved. The strand across the iris is called a 'persistent pupillary membrane,' and may not be related to said boyfriend's other issues.