This page is my gate to all things ocular albinism and vision impairment. My son Yon has ocular albinism which was diagnosed when he was about 3 years old, because of its rarity and difficulty to identify and diagnose. It took me awhile to understand it, to come to terms with it, and then it took me even longer to write what I found out here in the page.
I am not a medical professional, nor do I have any desire to be one, and this page is no substitute for seeing one. It is a starting point, a rally point, a place for people to find some answers. Everything written here should be taken under this context only.
What is Ocular Albinism?
Ocular albinism is a genetic condition that affects the eyes, by reducing the colouring (pigmentation) of the iris and the retina (the back of the eye). Ocular albinism affects the vision in a variety of ways, including vision sharpness (as we were explained imagine a bad Skype call), and 3D vision because the brain process each eye individually (it means, for example, that you can't tell how high the stairs you have to climb are). In addition it can also be accompanied by photophobia - an acute sensitivity to light (imagine a really cloudy day in London. Still hurts their eyes), nystagmus - a rapid involuntary movement of the pupils, squints (strabismus), peripheral vision difficulties, and long-sightedness.
The condition is a static one. It will not get worse with time, but nor will it get better. At the moment there is no treatment for it, no pills you can take, no surgery you can undergo to fix it. And there is no likelihood that there ever will be.
The doctors know most (but not all) genes causing it and most types of albinism and ocular albinism, they can test you before pregnancy to see if you have the genes (though it is not a standard test and you should ask for it specifically), they can test your baby after it is born, but they can't test it in utero, nor can they tell you where on the spectrum it will be. Yes albinism is a spectrum kind of thing. For most types of albinism, both parent have to carry the gene, and then the odds are 1:4 that their baby will have the condition (as it is in all genetic conditions). But with Ocular albinism it's trickier. Ocular albinism usually comes only from the mother (and called x-linked), and in that case if you have a son, he has a 50% chance of having ocular albinism. It will not affect daughters (they can be carriers, but that's it).
You won't find definite numbers to the question "how many people have it" because it is so hard to diagnose. The main problem is discerning between people who have full albinism and people who have ocular albinism. The only real way to do that it through a genetic test (a blood test). You can choose to not do it. We didn't because it meant having Yon go through another test, because we are not planning on having more kids, and because the diagnosis in our case was very definite. The doctors can identify the condition through running an EDD test, which is a test where they measure how your brain reacts to visual stimuli (or something like that), but without the blood test they won't be able to tell you if it's OCA (full albinism) or OA (just ocular). Because ocular albinism is usually (about 80% of the time) evident in the mother's eyes, they can try and look at the back of her eyes and see if it's there. It doesn't have to be, because it can also be that it was inherited through both parents.
Confused? Well, so are the doctors.
If we learned anything in the past four years it's this - doctors don't know everything. And medicine is not an exact science. First of all you have to remember that most people and doctors have never seen a child with albinism or ocular albinism, second of all, medicine is about trends and where you live, and third every case is a little bit different.
So, if you are here because you have just been diagnosed, my advice to you would be - take the time to read as much as you can. Unfortunately doctors as wonderful and necessary as they are, will not give you all the answers. Not even close. It's up to us, the parents, to help each other and learn from each other's experiences.
links for more resources about ocular (and full) albinism:
What Albinism Looks Like
Ocular Albinism - Casey's Story
Genetic Home Reference
The Vision for Tomorrow
Royal National Institute for the Blind (RNIB)
There are more, but these ones are a good place to start. These are a good place to start understanding what it is you and your child are facing.
Ocular Albinism - Our Story
For us, it has been, and still is, a long and hard road that took a turn for the worst lately, because even though we have been going with Yon to doctors since he was six months old, it still took us three years to get to a full and correct diagnosis. So I am sharing here our story in all its details so you can see what we've been through and still go through.
What to do when you suspect your child has a vision problem
It always starts the same way, right? You wake up one morning and realize you suspect your child has a vision problem. What now?
The short answer is - don't wait, go to your GP, get a reference letter to the eye hospital and start the long process of waiting, testing and praying.
I have many posts about our dealings with the diagnosis, the tests Yon went through, our feelings about his Ocular Albinism, the doctors, how school dealt with it and with us.... You name it, I probably wrote about it.
Starting school when you have Ocular Albinism
I was terrified when Yon started reception in September. He found nursery challenging, so adding a new teacher, new room, new kids and learning letters and math to the equation seemed terrifying to me. More than that it seemed like something that could never work. This is how we made sure it did.