Albinism and Your Eyes

Albinism is a rare group of genetic disorders that are often characterized by decreased pigment in the skin or eyes. It is caused by a mutation in one’s genes that control production of pigment throughout the body. That amount of pigment in one’s skin determines their skin color. The more pigment in your skin or eyes, the darker the color. There are two main types of albinism that can involve the eyes.

Ocular Albinism

In ocular albinism, only the eyes are involved. The most common sign that our optometrist will look for is irises with little or no pigment, meaning that they are light colored, often being a light blue. There might be small gaps in the iris as well. This can cause the patient to be light sensitive, in which case our optometrist may suggest tinted glasses to filter out some of the light or colored contact lenses that can also block out some light.

Other associated ocular findings include reduced vision due to changes at the back of the eye at the fovea, the point on the nerve fiber layer that is responsible for one’s central vision. This limits the amount of detail that a patient will be able to see, even with glasses correction, as there is an issue with the development of the nerves. Low vision aids such as magnifiers are also an option for decreased vision.

Nystagmus, a condition in which the eyes make repetitive and uncontrolled movements, is also found in patients with ocular albinism. The eye movements could be side to side, up and down, or circular. This can cause a patient to have issues focusing on an object and in turn have blurry vision. They may also feel dizzy or hold the head in a turned or tilted position to compensate. Often the treatment includes glasses or contact lenses to improve the vision as best as possible. Rigid contact lenses have shown to be successful for some patients in reducing the amount of eye movement. Surgery is also an option but rarely completed.

Strabismus, often known as an eye turn, is also associated with albinism. This is often a result of the poor vision and thus the eyes have a difficult time working together to focus on an object. It could be in one eye or alternate between the two, and could be present all the time or intermittently, often manifesting with fatigue. Treatment for this includes transiently patching the good eye or vision therapy.

Oculocutaneous Albinism

This type of albinism only differs in that in addition to the visual problems listed in ocular albinism, the skin and hair are also low in pigment. Hair color is often white or light blonde. Skin color is more pale than unaffected relatives. For this reason, sun exposure is a concern as it is associated with higher rates of developing dark spots on the skin (i.e. freckles). Sun protection is thus key.