Pediatric Ophthalmologist Appointment

Eliana had her appointment at the pediatric ophthalmologist in Ann Arbor today. They directed a lot of light into her eyes in order to inspect the anatomy of her eyes. (Needless to say, this did not make her very happy, particularly when they tried to pry open her eyes to look at her optic nerves). We didn't learn a lot of new things, but we did have a lot of things confirmed.

She does have aniridia - so she only has "stumps" of irises, as they called them. Since neither Doug nor I have it, this is defined as the sporadic case. This means that a specific chromosome was somehow damaged or mutated (not due to heredity), causing the aniridia.

The good news is that they confirmed that she does have some vision. We were quite sure of that before we went to the appointment, because we've noticed that she absolutely loves her Baby Einstein activity mat, and she definitely sees the lights and bright colors on the mat. We've also noticed that she loves staring into the mirror that is on her swing seat - she will sit and talk and coo and gurgle (and occasionally complain) to the person in that mirror for a long time!

Along with the aniridia (and probably caused by it), she has a horizontal nystagmus. This means that her eyes occasionally wobble from side to side in an involuntary manner. This condition is generally associated with mild vision loss, and while the vision loss generally doesn't get worse over time, it generally is not correctable with glasses. In her case, we've noticed that this happens more often when she's tired or very relaxed, so it's possible that it is related to muscle issues.

She is also severely near-sighted...apparently much more so even than your average infant. Thankfully, the near-sightedness is correctable with glasses, so the doctor said that they will prescribe glasses for her before she turns one year old.

The most concerning thing that the doctor said is that she apparently is missing some of her fovea, which is a part of the retina that is responsible for central vision, which is what gives us visual detail for things like reading, driving, recognizing faces, etc. As such, the doctor said she will never have 20/20 central vision. It is not known, however, how much central vision loss she has. We probably won't know that for sure until she gets older. This does not affect her peripheral vision, which could explain why it often looks like Elli is looking at objects or people out of the corner of her eyes.

Often, aniridia is associated with photophobia - significant light sensitivity. This was not addressed by the doctor at this appointment, but we are guessing this will be addressed as Elli gets older. We have been told that she will protect herself by keeping her eyes closed for now, especially since we don't really keep her out in direct sun at this point anyway.

There is a significant likelihood that Elli will also develop other complications related to the aniridia, including glaucoma, corneal problems, cataracts, etc. As such, she will need to have her eyes monitored closely to ensure that these things are caught at an early stage and treated quickly.

As mentioned in my earlier email, the sporadic case of aniridia (non-hereditary) can be associated with a whole host of other issues, which are apparently referred to as WERG syndrome, which includes malignant kidney tumors (known as Wilm's tumors). The chromosome that mutates to cause aniridia is next to the chromosome that causes WERG syndrome, so sometimes, when the aniridia chromosome is damaged, sometimes the one next to it is damaged as well. I've read that it's possible to do some genetic testing to see if the WERG syndrome chromosome is indeed damaged, so that is something we will ask her pediatrician about. Regardless, the doctor said today that she should be monitored every 3-4 months via an ultrasound to check for kidney tumors.

We have another appointment scheduled for September 17th for them to continue monitoring her condition. They did not get a good look at her optic nerves at this appointment, since she refused to keep her eyes open enough for them to shine that bright light in long enough to see them! So, they hopefully will be able to view the nerves at this next appointment.

Thank you all for your thoughts, prayers and concerns for Elli. We imagine there will many challenges ahead for her, but I'm encouraged by the people that I've read online that live a relatively normal life despite these challenges. We are thankful that she does have sight - that we can see her smile and coo when she sees her reflection. And we are just thankful in general for the joy she brings to our lives every day!