How Apert Syndrome affects my eyes

This week, I was looking in the mirror when I noticed that one of my eyes was twitching slightly, the eyeball itself making tiny, jerky movements. Is this normal for someone with Apert Syndrome, I thought, or just a sign that I am completely and utterly exhausted?

This thought spurred me to do some research into how Apert Syndrome can affect people’s eyes, and my own specific ocular issues.

Eye problems associated with Apert Syndrome

If you or a loved one was born with Apert Syndrome, you are no doubt aware that ocular (eye-related) problems are common with this condition. 

One of the main characteristics of Apert Syndrome is that one or more of the seams (‘sutures’) between our brain plates fuse prematurely before birth – known as ‘craniosynostosis’ – which consequently affects the growth of the skull and face. In terms of the eyes, problems manifest because of the position of the cranial base and the orbit, which is the part of the skull that holds the eyes. 

Thinking specifically about ocular issues, Apert Syndrome is associated with:

  • Proptosis – protrusion or displacement of the eye
  • Strabismus – abnormal alignment of the eyes, inward turning eyeballs (‘squint’)
  • Amblyopia – impaired or dim vision without an obvious defect to the actual eye
  • Optic atrophy – wasting away of the optic nerve, which can caused blurred vision, problems with peripheral vision, difficulties with colour vision, and a reduction in the sharpness of vision
  • Papilledema – this is rare but is the medical term for the swelling of the optic disc caused by intercranial pressure

In layman’s terms, people with Apert Syndrome tend to have slightly side-spaced and bulging eyes, a downward tilt to the side of the eyes, vision problems caused by the imbalance of the main eye muscles, and eyelids that don’t close properly.

How does Apert Syndrome affect my eyes?

My eyes are widely spaced; my right eye protrudes more than my left eye (something my optician keeps a close eye on), they’re constantly dry, and my eyeballs seem to twitch. I also have a squint caused by the surgery I had as a child to build up my cheeks and forehead. 

However, whenever my boy, Elijah, and I attend craniofacial appointments, I am always told that we don’t have ‘typical Apert eyes’. I imagine this is because of the craniofacial surgery we have both had.

How Apert Syndrome affects other people’s eyes

Wanting to find out more about whether there is such a thing as ‘typical Apert eyes’, I went on to some of the many Apert-related Facebook pages and forums to which I belong and asked about other people’s experiences.

I was amazed and grateful that so many people took the time to respond, so a big shout out to anyone who was kind enough to share their story. Here are some of the replies that I received:

1. My daughter, Ema, has muscles that need to be surgically corrected so her eyes are better aligned in the eye socket. She's done 2 surgeries so far and will have a 3rd when she's in high school in combination with a reconstruction of her midface and jaw. Currently she requires glasses because she has very poor long distance sight and she requires magnification for reading letters/words and signs. Her eyes are large but her previous surgery addressed the protrusion they both had. 

2. My eyes don't shut all the way when I sleep, this sometimes causes dry eyes, but luckily it's nothing too major. They also don't focus on the same thing at the same time. When I look straight ahead, I'm looking out of my right left eye does its own thing. At this time, I choose not to do anything to correct either issue

3. Ash has had 3 strabismus surgeries as she was missing 3 eye muscles in each eye. And may need another tweaking soon. We used eye drops for years and then we were able to stop after the Midface surgery but now they told us to start using them again.

4. I have strabismus and have had one eye muscle surgery to correct it. (We also did patching for the stronger eye for 5 years before the surgery). The strabismus is as good as it's going to get but I'm told it's not that bad anymore.

5. Marshall's eyes don't close all the way when he sleeps either; as his mom, I'm always wondering, "Is he getting proper sleep? How can he sleep with his eyes open? Are his eyes registering sight? Is he able to turn the world off if he can't fully close his eyes?" 

6. I had eye muscle surgery when I was an infant. Now I have really sensitive eyes they water up with sunlight and putting mascara on. During my senior pictures I was blinking like crazy because of the bright lights lol.

7. I had some eye muscles done too and I am half blind out of my left eye and I can see some out of it the right eye is my good eye and I have aperts too and 96 suargers too.

8. I also got glasses 2 years ago mainly for distance, but use them at the computer as well to prevent eye strain. I'm getting ready to get my new pair, and it will be interesting to see if my vision changed. I am also extremely sensitive to light and cannot go outside without sunglasses. So I have prescription glasses and sunglasses now and that's what I will get again. I don't think I have ever had (or needed) any eye muscle surgery.

9. Mackenzie had strabismus. Had muscle tightening surgery and was found to be missing 2 of the major eye muscles. She has worn glasses since 18 months and has progressed to trifocals with no signs of her poor vision getting any better. It has gotten worse every single exam.

10. Billy had a herniated left eye at 10 wks where we had to massage his eyelids back over his eyeball. He ended up with a corneal ulcer and had to undergo emergency surgery to completely shut his eyelids by sewing them together. As a result of that he had to have his front orbital advancement at 16 wks. He has very, very bad eyesight, no depth perception and very little sight in his left eye due to the scar. 

11. Just remembered I also have a macular torpedo (lesion) on my right (stronger) eye. Though you can't see it just looking at me. I don't think it affects my vision (corrected 20/30 right, 20/40 left).

12. At about 2 or 3 months we were told Kees was very near sighted but 3 months following his vision improved to normal, where it has stayed. He has proptosis and they attempted to correct it with a frontal orbital advancement but they couldn't get the forehead forward enough to fully protect the eyes, so they will need to redo it. Both his eyes look straight ahead and focused when he looks straight ahead or down, but anytime he looks up, one eye goes in a different direction. This happens the same with both eyes. So if he looks up and to the right his left eye will look down and to the left and vice versa. What's important is that both eyes do the exact same thing and lock in when looking straight ahead. As long as he maintains that he won't develop a lazy eye. Originally we were told it will require surgery, but because his vision is good, they may not because it might ruin that. They also have to determine why his eyes do what they do but can't until all his skulls surgeries are complete. Also, before his FOA he slept with his eyes open and we had to lacrilube every night to prevent dried out corneas. Our ophthalmologist still asks that we put in thickened eyes drops twice a day to help with wetting of the eyes. Since he now sleeps with his eyes closed, we no longer have to lacrilube. 

13. I thought it was really interesting that when Olivia went to her opthalmologist appointment in September, Dr Edmonds informed us that Olivia has no depth perception after I asked her why ramps that have a visible difference in height are always a problem for her. She explained that for her everything she sees seems to be pretty much flat as if in a book. I would like to see what it’s like to see through her eyes. 

Just this handful of responses shows what a range of ocular issues Apert Syndrome can cause, and that it affects vision and depth perception acutely in some cases.

Can eye problems with Apert Syndrome be corrected?

Again, the responses above show that it’s fairly common for eye problems to be treated with patches and/or glasses. However, surgery is often recommended for a child with Apert Syndrome around three to four months in age. 

Frontal-orbital advancement surgery can increase space within the skull and the size of both orbits. In turn, this can give the eyes more stability within their sockets and help to create better symmetry and reduce protrusion. It is also possible to correct vision problems and excessive or insufficient tearing of the tear ducts by changing the facial bones.

For people with Apert Syndrome, dry eyes are a common but potentially dangerous problem. I use eye drops during the day and lubricating eye ointment at night to stop my eyes from drying out and being damaged. 

Doctors may recommend eyelid surgery to correct the downward tilt of the eyelids or to improve the extent to which the eyelids can close. 

There is are no hard and fast rules about whether you should have surgery. What’s clear is that, as with every aspect of Apert Syndrome, the extent to which ocular issues will affect you or a loved one will depend on your individual case. Some people have extensive problems while others say that Apert Syndrome barely affects their eyes.

Now I’m going to hand the conversation over to you. Does having Apert Syndrome affect your eyes? If so, how? What treatments have you had? Do you have any strange symptoms, like my twitchy, jerking eyeball? I’d love to hear your experiences in the comments section below or over on the Elijah’s Hope Facebook page.

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