Microphthalmia: small eye

The doctors at the Sick Kids Hospital Eye Clinic confirmed the diagnosis of microphthalmia (small eye) for our baby. Her left eye is less than half the size of a normal eye, and the lens is still milky-white instead of clear – a sign that it prematurely stopped developing. She’s unlikely to be able to see anything more than light or shadow in that eye, if at all. It’s too small to operate on, and there’s no way to restore vision in that eye.

2016-03-03a Microphthalmia - small eye -- index card #microphthalmia

Everything else (including her right eye) seems normal so far, so it might be isolated microphthalmia instead of part of a syndrome. We’ll be scheduled for a full pediatric check-up anyway, just in case. She’ll probably be able to see fine with her right eye.

Lots of people get by with monocular vision. She’ll need to be careful about keeping vision in her right eye, of course. She’ll probably be near-sighted in he right eye like W- and me, so glasses will offer some protection.

As her head grows, she’ll need to wear ocular prostheses to get the eye socket to be the right shape and size. She’ll go for her first fitting in a few months, when the risks for general anaesthesia are lower. An ocularist will make a mold and then create prostheses for her. That’ll help keep her face balanced as she develops.

She’ll make an awesome pirate. Or cyborg. Or cyborg pirate. If she wants. Whatever life throws at us, we’ll just have to make the most of it. We’ll learn as much as we can, connect with other families figuring out similar challenges, and work on giving her a great start in life.

Here are some resources I found helpful for learning more about microphthalmia and anopthalmia (a related condition where the whole eye has not developed):

Treatment (anopthalmia.org): describes the process of expanding the eye sockets through prosthesis and tips for early intervention (ex: orientation and mobility training).

A practical guide to the management of anophthalmia and microphthalmia (nature.com): Related systems to examine, pictures to show the effects of prostheses, a detailed description of ocular prosthesis, and long-term management

A letter to new parents living with microphthalmia (wonderbaby.org): An article from someone with bilateral microphthalmia whose right eye developed enough to have usable vision, emphasizing the importance of constant stimulation, parental attitude, and Braille even for people with partial vision.

Facts about anophthalmia and microphthalmia (nih.gov): describes prostheses needed until the age of 10.

Anophthalmia and microphthalmia (biomedcentral.com): Orphanet Journal of Rare Diseases article that covers related genes, diagnostic methods, and management

Ocularists (anophthalmia.org): What an ocularist does and what to expect

Assistive Device Program (health.gov.on.ca): Ontario program that pays up to 75% of the cost of equipment, including ocular prostheses; policy manual. The rest may be partially covered by insurance (through W-‘s work or my PHSP), or we can claim part of it as a medical tax credit.

IamA 15 year old male(in high school) that lives with an artificial(fake) right eye due to Microphthalmia since birth AMA! (reddit.com): What it’s like for a teenager

Sometimes I feel a little intimidated. Will we be able to effectively identify and advocate for whatever could help her? What will it be like helping her get the hang of caring for her prostheses? Can we give her enough of a solid emotional foundation so that she can weather the challenges ahead? But maybe this obstacle will become one of the ways we contribute to the world. W- has been wonderfully supportive. There will probably be rough patches, but we can get through this together.

We’ll learn more over the next few months and in the years ahead. I’m working on getting a referral to the Canadian National Institute for the Blind so that we can tap into resources for kids with vision impairments. In the meantime, there are all the usual things to learn about life with a newborn, too. Onward.

  • Andy Jewell

    I’m thankful for you that she has a GOOD eye! I’m sure she’ll be fine and will be a great model in her future for other kids – the real poster child! Hang tough little A! :-)

    • Yes, it’s important to measure up (yay! we’re alive! and we have a kiddo!) instead of measuring down. =) She’ll be awesome!

  • Ana Kimmel

    Hello. I have microphthalmia of the right eye with no other conditions or abnormalities. I know it’s such a rare disease and I personally have never met anyone like me. I wanted to let you know that you can contact me with any questions you have. I’m happy to offer support in any way I can! Just let me know if you would like my contact information. :)

    • How thoughtful of you! Have you joined the MAPS(Microphthalmia, Anophthalmia Parent Support) group on Facebook yet? Seeing the stream of updates from families with these conditions has helped me feel a lot more comfortable with what’s ahead. I’m still uncertain about whether A- will be comfortable with the conformer since some kids are fine with them and some kids get complications or don’t like them. She’s scheduled for an impression under general anesthesia, though, so that will help the ocularist make sure they fit well.

      If you happen to be in Toronto, I’d be happy to meet up! Whether or not you are, if you’re on Facebook, I’d love to hear from you in the MAPS group. That way, many other families can also learn from your experiences. Thanks for reaching out!

  • punchagan

    Sacha, thanks for writing this up publicly on your blog!

    I really liked, how you say “She’ll make an awesome pirate. Or cyborg. Or cyborg pirate. If she wants. Whatever life throws at us, we’ll just have to make the most of it.”.

    Wishing, little A and your family, the best. Onward!

    • Thanks! She got her artificial eye a couple of weeks ago, and has adapted surprisingly well to it. It popped out once, and we were able to get it back in with very little fussing. Yay A-!

  • Lawrence

    Hi Sacha, Lawrence Santiago here. We went to Ateneo together and I’m now here in Calgary. I was researching on micropthalmia and came across your website. I have the same condition as your child and While it was a struggle, it’s definitely made me more resilient.

    • Nice to hear from you! What are some of the things that worked well for you and your family?

      I’m less anxious now than I was in those early months. The MAPS support group is a great resource. A- has gotten used to wearing her conformer. We still have to get her used to wearing glasses for safety, though. I bought the Clinical Ocular Prosthetics textbook for my own curiosity, and have read a couple of chapters so far. We’re keeping a close eye on her development in case she has any related conditions, and I’ve learned about parent advocacy resources in case she needs help with the school system later. When she’s old enough to ask questions and wonder about her eye, I might take her to the ICAN conference or meet up with some local families on a similar journey. We can deal with this, and we can learn and share lots along the way. :)