Ocular albinism is a condition in which the pigment in the eyes is missing or reduced. Ocular albinism is similar to oculocutaneous albinism which also impacts the skin and hair.
Who Can Have Ocular Albinism?
Ocular albinism is predominantly found in males because the genetic inheritance of the condition. The condition is inherited as an X linked disease which means that male children are susceptible to developing the condition without either parent having the disease.
In many cases, there is a degree of family history – either an uncle, cousin, or other relative will also have ocular albinism – but there are cases of ocular albinism in which there is no relevant history of albinism in the family.
Ocular albinism is usually diagnosed in early childhood and is present from birth as it is a result of a genetic variation.
Symptoms of Ocular Albinism
Ocular albinism can have a variety of symptoms depending on the severity of the disease.
Common symptoms include light sensitivity, nystagmus or eyes beating back and forth, an eye turn, and reduced or blurry vision.
Since the pigment normally found in the eyes is absent, the eyes are more susceptible to sensitivity to light.
The pigment would typically absorb much of the light in a standard environment, but when the pigment is absent, it can cause light sensitivity in what should be a standard amount of lighting.
The reduction in vision and nystagmus are both due to the underdevelopment fovea in the retina. The fovea is the area responsible for the central vision and fine detail; in ocular albinism it is reduced or absent altogether.
Strabismus, or an eye turn, can develop in ocular albinism. Often, the strabismus is very large and a result of one eye having worse vision or a more severe presentation of ocular albinism.
Diagnosing Ocular Albinism
Unlike oculocutaneous albinism which has many apparent visible signs, the signs of ocular albinism may be much more subtle.
While some signs such as nystagmus and an eye turn can be seen easily, these are not enough to diagnose ocular albinism alone.
A complete eye examination is required to determine the overall health of the eyes and whether ocular albinism is a potential diagnosis.
Additional testing, such as a laser scan of the retina or genetic testing, may provide additional information that aides in diagnosing ocular albinism.
In the end, an eye doctor will be the one to make a formal diagnosis of ocular albinism.
Treating Ocular Albinism
Currently there is no cure for ocular albinism. However, treatment for the signs and symptoms that come with ocular albinism is available.
There are surgical and non-surgical interventions for an eye turn or nystagmus.
While the likelihood of a patient with ocular albinism having perfect vision even with glasses is low, there are lots of possibilities for improving vision and activities of daily living using glasses or contact lenses.
Additionally, patients with ocular albinism will typically benefit from seeing a low vision specialty clinic to discuss further treatment and device options.