Albinism Syndrome

Albinism is a rare genetic disorder where you aren’t born with the usual amount of melanin pigment. Melanin is a chemical in your body that determines the color of your skin, hair and eyes. Most people with albinism have very pale skin, hair and eyes. They are prone to sunburn and skin cancer.

Causes of Albinism Syndrome #

Albinism is caused by mutations in specific genes that are responsible for melanin production.

Types of Albinism Syndrome #

Oculocutaneous albinism #

Oculocutaneous (pronounced “ock-you-low-kew-TAIN-ee-us”) albinism, or OCA, is the most common type of albinism. People with OCA have extremely pale hair, skin and eyes. There are seven different subtypes of OCA, caused by mutations in one of seven genes (OCA1 to OCA7).

Ocular albinism #

Ocular albinism, or OA, is much less common than OCA. Ocular albinism affects only your eyes. People with OA usually have blue eyes. Sometimes your irises (colored part of your eyes) are very pale, so your eyes may appear red or pink. This is because the blood vessels inside your eyes show through the irises. Your skin and hair color are usually normal.

Hermansky-Pudlak syndrome #

Hermansky-Pudlak syndrome, or HPS, is a type of albinism that includes a form of OCA along with blood disorders, bruising issues and lung, kidney or bowel diseases.

Chediak-Higashi syndrome #

Chediak-Higashi syndrome is a type of albinism that includes a form of OCA along with immune and neurological issues.

Symptoms of Albinism Syndrome #

• Very pale skin, hair and eyes.

• Patches of missing skin pigment.

• Crossed eyes (strabismus).

• Rapid eye movements (nystagmus).

• Vision problems.

• Light sensitivity (photophobia).

Diagnosis of Albinism Syndrome #

• Your healthcare provider may do a physical exam and examine your skin, hair and eyes.

• However, a genetic test will provide the most accurate results and help determine which gene is mutated.

• This DNA test will help determine which type of albinism you have.

Treatment of Albinism Syndrome #

There is no cure for albinism. You must manage the condition by being vigilant about sun protection. You can protect your skin, hair and eyes by:

• Staying out of the sun.

• Wearing sunglasses.

• Covering up with sun-protective clothing.

• Wearing hats.

• Applying sunscreen regularly.