A month or so ago, Kale's doctor at UAB had mentioned to us that Kale's diagnosis included something called Cryptophthalmos (hidden eye)--a rare congenital anomaly in which the skin is continuous over the eyeball with absence of eyelids (simplest definition I could find courtesy of Wikipedia). Dr. Scruggs briefly went over it but I'm pretty sure she was telling us this after one of his surgeries so some of the information kind of went in one ear and out the other.
Since then I have done all the research I could to find out more. Unfortunately, there isn't much out there that isn't associated with something called Fraser Syndrome (which I was pretty sure Kale didn't have). So I had e-mailed Dr. Scruggs a week or so ago with a bunch of questions that I have been meaning to ask (but somehow always forget to ask). She had contacted me and let me know that she received the e-mail and was doing some research and would respond once she had all the correct information--cryptophthalmos is apparently exceedingly rare (supposedly only a little over 100 reported cases, around 30 of them isolated--crazy, huh?) and certainly not anything she has ever dealt with.
Well, today I finally got her e-mail. Kale has what is called isolated complete bilateral cryptophthalmos, which is, (quoting from an article Dr. Scruggs quoted from) "Failure of formation of the lid folds and globe results in skin extending from the brow to the cheek without identifiable adnexal [eyelid] structures. Ultrasound may identify a vestigial ocular structure or cyst within the socket."
Because his is not associated with any syndrome (that we know of--at least not with Fraser Syndrome), his crypto is isolated.
There are 3 different types of cryptophthalmos: complete, incomplete or partial, or abortive. Dr. Scruggs sent me info on all types and his is the complete type (which I described a bit ago).
One of my questions was whether his microphthalmia was a result of the cryptophthalmos or the other way around. She said that if an eyelid is not properly formed, then the globe (eyeball) will be abnormal as well. So, the microphthalmia is a result of the cryptophthalmos.
How does cryptophthalmos happen? Here's what Dr. Scruggs said:
"From what I have read, cryptophthalmos results b/c of an early embryologic failure of development of the eyelid folds. Development of the eye is totally dependent on having a normal eyelid, so if lid development fails in the embryo, the globe cannot develop normally. I do not know why Kale has a small (microphthalmic) eye on one side and a full-sized (but still abnormal) eye on the other (for which I do not have a term--there was no cornea, only sclera)."
So. There you have it. Kale's diagnosis is actually Isolated Complete Bilateral Cryptophthalmos (with Microphthalmia). I don't know if he's still considered as having bilateral microphthalmia--she's saying his left eye is full-sized (but abnormal), but we've been told that while it appears to be normal in size, it is still microphthalmic.
It is nice to finally know everything. I always just thought Kale's microphthalmia was more severe than others--and we've certainly had issue after issue with his lack of eyelids. Turns out it's just a more difficult situation with him because of something else entirely. Not that it's a good thing, but it makes it a little easier to understand. For me, anyway.
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In your very first post, you said he had Bilateral Microphthalmia. Is the official diagnosis now Isolated Complete Bilateral Cryptophthalmos (with Microphthalmia)?
Yep! He's always had the microphthalmia--but it's due to the cryptophthalmos. Crazy, huh? His isn't as severe as some pictures I've seen online--but before he ever had surgery you could tell that his eyelids were never fully formed. There was more fused skin than anything.
We've been dealing with an ocular plastic surgeon this whole time rather than an actual ophthalmologist. When he was born he was seen by some ancient old-school pediatric ophthalmologist locally who didn't know what he was doing. Then he was seen by another ophthalmologist at UAB (where we go now). And since there's really nothing for him to do right now at this point, he referred us to the surgeon who's been treating Kale.
Isolated Complete Bilateral Cryptophthalmos (with Microphthalmia) - Say that 10 times really fast. :)
I'm in awe of you. Really I am. Instead of just waiting by the sidelines, you actually go out and research stuff yourself. But that's what you do, because that's the type of person you are and that's what Kale deserves. I wish you and your family all the best!
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