Sophia has never shown any signs of this affecting her so far. There's a possibility later in life that she could start to show symptoms, but right now there are no signs that this dystrophy will affect her eyes. For the last few months though our little Millie has been dealing with watery, swollen and red eyes off and on. Sometimes it happens at the same time, other times it'll affect one eye and then the other. We went to her pediatrition the first time it happened. She woke up with both eyes swollen, water literally streaming out of her eyes and they were red rimmed. She didn't want to keep her eyes open at all and just laid on me. Of course they thought it was an infection, specifically pink eye. (mommy instincts said no we have had pink eye in the past and it totally didn't look like it) but we had to get the ball rolling. We gave her creme antibiotics in her eye and in about 5 days it got better. When it happened again about two weeks later in her left eye we took her to an optomologist who dialated her eyes and said they looked very healthy. The kicker was that her left eye was so swollen the next day after seeing the eye Dr. we called back and they referred us to a pediatric eye specialist, a miracle worker in our area. We saw him and he ruled out glaucoma, cataracts, juvenile idiopathic arthritis and thinks it is the Reis Buckler dystrophy. However, after he said this he looked at us and said I don't know how to help you. I've never seen this in someone so little. To which my mama heart and eyes started crying. As that point I just couldn't believe that there wasn't a way for him to help us. As of right now we are being referred to Seattle Childrens Hospital. We aren't sure if there is anyone there who can help us, but like the pediatric eye specialist said, this can't be the only little girl in the Pacific Northwest who has this. We want to think that someone within Seattle Childrens has had to have seen this before and know what to do. So we wait and see.
Because this is something that will affect Millie for the rest of her life we are wanting to find her a lifelong Dr. that can help her. Since this isn't something that can be cured we want to try to manage the dystrophy before symptoms present themselves.
Reis-Bücklers corneal dystrophy, also known as Corneal dystrophy of Bowman layer, type I, is a rare, idiopathic corneal dystrophy in which the Bowman's layer of the cornea undergoes disintegration. The disorder is inherited in an autosomal dominant fashion, and is associated with mutations in the gene TGFB1.
Reis-Bücklers dystrophy causes a cloudiness in the corneas of both eyes, which may occur as early as 1 year of age, but usually develops by 4 to 5 years of age. This cloudiness, or opacity, causes the corneal epithelium to become eleveated, which leads to corneal erosions. The corneal erosions may prompt attacks of redness and swelling in the eye (ocular hyperemia), eye pain, andphotophobia. Significant vision loss may occur.
Reis-Bücklers dystrophy is diagnosed by clinical history physical examination of the eye. Labs and imaging studies are not necessary. Treatment may include a complete or partial corneal transplant, or photorefractive keratectomy.
I pulled that right out of wikipedia. You can find more information here if you're interested.
We don't know when Millies eyes will act up so there may be times you'll see her eyes swollen or red or watery in pictures. This is something that is hard for me personally to deal with because as a Mama you want to protect your children and fix everything. This is something that is not fixable. We as a family will learn how to help her and how to deal with it in our lives. We love our little girl and just want to get the best help we can for her.