Yesterday was the day we had been waiting for since we made the appointment a month ago. It was Will’s eye doctor appointment with Dr. Avery Weiss at Seattle Children’s. This was the day that we would confirm Will’s Ocular Albinism and try to get as much information as we could from Dr. Weiss, who came very highly recommended. Needless to say I didn’t sleep that well the night before. Overall the appointment was good. I think we got most of our questions answered.

Dr. Weiss confirmed the diagnosis of Ocular Albinism (OA) as we expected. All the other tests helped us establish a vision baseline and give us an idea of where he might end up (we will have a much better idea in 6 months).

The first thing they did was test his visual acuity again. This was the same test that Dr. Barrall performed when we saw her. This time he tested in the normal range (before he was below normal). This is his acuity, not his vision. They also tested his vision (to determine if he needed glasses) and he doesn’t need glasses at this time. With OA his vision will continue to get better up to a point (unlike a typical child’s vision), then it will level off and not improve while normal eyes would continue to improve. The eye continue to develop until the age of 3-4.

They looked at his nystagmus and determined that it is slow low amplitude nystagmus, which is conjugate, horizontal and pendular at a rate of 3-5 degrees and 1-2 hertz. This means his nystagmus is not that bad and he should learn how to compensate for it as he grows up. It appears that he is adopting a chin down posture to minimize his nystagmus. Jim and I have already started to notice this and think it is getting a bit better, his eyes not moving as much as they once did.

His eyes were then dilated to look at the back of his retina. He has macular hypoplasia and no melanin pigment in his retina, consistent with his previous diagnosis of OA. Based on this, Dr. Weiss surmised that his vision would probably fall into the 20-60 to 20-80 range. Someone with 20-60 vision is only able to see from 20 feet away what a person with 20-20 vision could see from 60 feet away. Unfortunately defects in the retina cannot be corrected with glasses. Only optics defects (in the lens) can be corrected by glasses.

He will also have binocularity deficiencies. Binocular vision incorporates images from two eyes simultaneously. The slight differences between the two images seen from slightly different positions make it possible to perceive distances between objects, or depth perception. With OA, the connections between the eyes are not wired correctly, so it makes it harder for them to make the complete image. What role this will play ultimately we will have to wait to see.

One of the interesting things that came out of the appointment was the Jack and I also have iris transillumination and both cases may actually be worse than Will’s. He dilated one of my eyes (which is a very strange sensation and I looked really weird too) to look at my retina. I have a normal retina and after Lasik surgery have normal vision. Jack has not showed any signs to date of any vision issues and appears to see and read fine (he sees better than Mom and Dad). The Doctor will do a complete exam on Jack at our next visit.

In the end, we came out with a confirmation of the diagnosis, a better idea of where his vision will fall and a better understanding of OA. We liked Dr. Weiss and were very comfortable with him. He wants to see Will in 6 months and did not feel there was a need to do further genetics testing to either confirm his condition or rule out other related conditions.

In our next exam, he will be able to plot on the curve where Will’s vision will likely end up. It was a long appointment (4 hours), but a good one. We are cautiously optimistic, but know that Will’s vision will be impaired for the rest of his life and never be normal. However, it was good to confirm what we are dealing with, establish a benchmark for his visual development and add a critical member to his healthcare treatment team. As a reminder, the Vision section on this blog has a lot of questions and answers regarding his condition and what we can expect.