By Linda Hardy, LDO-GA, CPOT, COA
Over the past 20 years, I’ve seen some pretty interesting things during clinic time. I recently had the amazing experience of meeting a young man with albinism. In the United States and Europe, there are only one in 18,000 to 20,000 people who have some type of albinism. He was only the second patient I have had the opportunity to work with, and the first Caucasian male. I decided to research the condition.
Albinism, also called achromasia, is an inherited, genetic condition. The most common cause of albinism is an interruption in the functioning of the enzyme tyrosinase. (Tyrosinase is the copper- containing enzyme present in plant and animal tissues that catalyzes the production of melanin and other pigments from tyrosine by oxidation.) Albinism is characterized by a lower rate of melanin production, the pigment responsible for the color of skin, hair and, eyes. There is no cure for albinism, but some symptoms can be treated. There is an estimated 1 in 70 people who carry the genes associated with albinism.
The most well-known symptom is light skin color. Most people with albinism have a fair complexion, no matter their race. Hair color can vary from white to light brown. Those of African or Asian descent tend to have yellow or red hair. Eye color tends to be very light grey or blue.
Visual acuity is always affected by albinism. It is very common for albino patients to have a nystagmus. This is a condition in which the eyes move rapidly and uncontrollably back and forth. Due to the lack of pigment in the iris, a person will have severe photophobia. Some patients may have an amblyopic or “lazy eye”. Others may have strabismus, when the eyes do not function in unison. Many patients will be very nearsighted or farsighted, or have a great deal of astigmatism. Other possible conditions are optic nerve hypoplasia which is an underdeveloped optic nerve. The underdeveloped optic nerve can result in misrouting, an issue in which the nerve signals from the retina to the brain follow an unusual neural route.
The patient I worked with was a 23-year-old, white male. His current prescription was +6.00-4.00x180 both eyes, with a +3.00 add. He was wearing lined bifocals. This patient’s iris was light blue, almost colorless. He was extremely photophobic. Best corrected visual acuity was 20/200 even with a slight increase in his prescription. This young man had a severe nystagmus. I was able to get retinal photos showing his pale fundus.
| Left Eye Fundus Photo||Right Eye Fundus Photo|
It is unfortunate that we could not do more to help this young man, but we updated his glasses and sunglasses to assist as a low vision aids and to help with light sensitivity. He has adapted well over the years to his condition, and fortunately albinism is not a condition that worsens with age. It has been found that pigment normally increases with age. This will not help the visual acuity or nystagmus, but it will help with the photophobic discomfort.