Thank you, and thank you! Now, back to Ocular Albinism.
In the weeks since Makayla was diagnosed with Ocular Albinism (OA), I have been learning so much.
In a previous post, I told you about a mom, Claire, that I had connected with from England whose son, Jack, is the same age as Makayla. Our children are the same age we started talking shortly after Makayla nad Jack were diagnosed. We connected over a desire to gather as much information as possible about Nystagmus and treatment, as well as the experience of being new moms. We have continued to stay in touch and fill each other in on our unique journeys. One of the things we learned early on was that there are very unique differences in the diagnosis and treatment of Nystagmus in the United States and England. You can read about some of those differences on her blog, Living With Nystagmus.
When Claire learned that Makayla had been diagnosed with OA, she helped me to connect with another mom, Amy, here in the US, whose son, Liam, has OA and is just a few months younger than Makayla and Jack. Getting in touch and exchanging emails with Amy has been so helpful. She is extremely positive and and optimistic and has shared so much useful information with me in the short time we have been exchanging emails.
First I want to share a page from Amy's blog, Through the Eyes of Liam, where she explains OA. The whole time I was reading it I was nodding and saying, "yes, yes!" because it explains Makayla so perfectly! Had I read this blog a year ago, I could have taken it to Makayla's doctors and told THEM that she had OA. Seeing all her symptoms laid out like this, the light sensitivity, the depth perception problems, the strabismus, it makes me a little frustrated that it took a year and a half, and going to Ohio to get an actual diagnosis.
"Ocular albinism is a genetic condition that primarily affects and is limited to the eyes. This condition reduces the pigmentation or coloring of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. It can be seen in people whose eyes are green brown or blue though most often the iris is a shade of blue. The iris can be completely or partially transparent or could have small holes in its pigmentation. Pigmentation in the eye is essential for normal vision as it is what filters the light coming into the eye. If the pigmentation has any holes, the patient has Ocular Albinism, meaning too much light is getting in through the holes and causing some vision loss and light sensitivity (photophobia) for the patient. If the pigmentation is transparent or there is no pigmentation to block out the light then complete blindness occurs.
Ocular albinism is characterized by severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth (stereoscopic vision). The vision does not worsen over time but the vision loss is permanent. Other eye abnormalities associated with OA include rapid, involuntary eye movements (nystagmus); eyes that do not look in the same direction (strabismus); and increased sensitivity to light (photophobia). Many affected individuals also have abnormalities involving the optic nerves, which carry visual information from the eye to the brain.
Unlike some other forms of albinism, ocular albinism does not significantly affect the color of the skin and hair. People with this condition may have a somewhat lighter complexion than other members of their family, but these differences are usually minor. There is only one type of OA which has been genetically linked in male children as having been inherited from their mother who would carry the recessive gene for OA. If ever OA is found in female children then either OCA (Oculocutaneous Albinism, of which there are several types) is assumed or the gene must be carried by both mother and father.
Treatment of ocular albinism includes using visual aids and environmental changes to expand the limits of vision. Surgery for strabismus is sometimes helpful, but usually does not result in fine coordination of the eyes. Surgery can improve the field of vision if the eyes are crossed, and may improve appearance and the child's self image. Currently there is no cure for Ocular Albinism.
List of issues associated with the lack of pigment in the eyes:
• Reduced visual acuity from 20/60 to 20/400 and sometimes as good as 20/25 in African-Americans,
• Nystagmus - involuntary back-and-forth movement of the eyes,
• Strabismus - crossed eyes or "lazy" eye, and
• Sensitivity to bright light and glare.
Definition from the NOAH website:
”Ocular albinism in an inherited condition in which the eyes lack melanin pigment, while the skin and hair show normal or near-normal coloration.”
Definition from Wikipedia:
”Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes. There are multiple forms of ocular albinism, which are clinically similar.”"
Secondly, One of the things I found really interesting on her blog was this interesting video that was created by a woman with albinism to help describe how someone with OA might see.
Of course, there are many other things that may play a role in how someone with OA might see, like astigmatism and what not. As I understand it, people with OA often have a very bad astigmatism which further impacts their vision. From what we can tell, Makayla's near sighted vision seems very good, and the doctors have said that she has only a very slight astigmatism. One doctor predicted she may see as good as 20/40 or 20/60 (for perspective, my bad eye is 20/40 and I can drive without corrected vision). And Dr. Hertle described her transillumination as mild, so I'm hopeful that this video may demonstrate even more light interference than Makayla has.