Overview of Albinism

Albinism is a genetic disorder that negatively affects the body’s production of melanin. Melanin is what gives a person color to their skin, hair, and the irises of the eyes.

Commonly Associated With

Ocular albinism, and Oculocutaneous albinism

Cause Of Albinism

Albinism is a genetic disorder. It occurs whenever at least one of several different possible genes are abnormal – this abnormality prevents the body from distributing or producing melanin as normal.

There are several different varieties of the disorder. The most severe form is oculocutaneous albinism. This form produces white hair, white or pink skin, and a pink or very light iris color. Those with this form can also suffer from vision difficulties.

Another type, ocular albinism type 1 (OA1), is only known to affect the eyes. The retina will lack normal pigment, but the skin, hair, and other parts of the eyes will be normally pigmented. An eye exam will typically diagnose this disorder.

A single gene change causes Hermansky-Pudlak syndrome (HPS), another form of albinism. It often co-occurs with other diseases, such as lung disease, kidney disease, various bowel diseases, and bleeding disorders.

Symptoms Of Albinism

People with albinism will usually have at least some of these main symptoms:

  • Areas of skin that are missing the normal skin coloration
  • A lack of coloration in the skin, hair, or iris of the eye
  • Lighter than average hair and skin color

Several different versions of the disorder can have the following symptoms:

  • Severe vision problems, or functional blindness in some cases
  • Light sensitivity
  • Crossed eyes
  • Rapid eye movements (nystagmus)

Exams & Tests For Albinism

The most accurate method of diagnosis is genetic testing. This type of testing can be especially helpful if there’s a family history of albinism. It’s also a useful test for specific groups of people who are especially prone to the disease for some reason.

A health care provider could also diagnose albinism based on the appearance of the skin, eyes, and hair. An ophthalmologist (eye doctor) may also perform an electroretinogram. This test reveals the presence of albinism-related vision problems in the person. Another visual test, called a visual evoked potentials test, could also be useful if the diagnosis is uncertain for some reason.

Treatment Of Albinism

No actual cure for albinism exists, and most treatment focuses on symptoms. The severity of the disorder determines what types of symptom-relieving treatments are used.  

The most important treatment involves protecting the skin and eyes from the sun at all times. Methods to do this can include:

  • Use high SPF (sun protection factor) sunscreen at all times when outside during the daytime, regardless of weather conditions.
  • Wear UV protective sunglasses whenever outside during the day to help with relieving light sensitivity.  
  • Reduce the risk of sunburn by avoiding direct sun exposure as much as possible, using sunscreen at all times during the day, and covering up as completely as possible with clothing whenever exposed to the sun.

Eye treatments unrelated to sun exposure include:

  • Glasses – they’re often prescribed for correcting/relieving vision problems and eye positioning abnormalities. In some cases surgeons may correct the eye muscles in order to alleviate abnormal eye movements.

Other Information

Contact a health care provider if you have albinism and are experiencing any warning signs of possible disease progression. Those with albinism should be especially wary of excessive light sensitivity or eye discomfort and should be sure to look out for any changes to the skin that could be an early warning sign of skin cancer.