Albinism (patient information)

Albinism is an inherited disease which is caused by defective melanin production. Melanin gives color to skin, hair, and eyes.

Symptoms of albinism include both dermal and eye features:

• White or hypo-pigmented hair
• White or hypo-pigmented eyelashes
• White or hypo-pigmented skin
• Photophobia
• Decreased visual acuity
• Pink or hypopigmented eyes
• Strabismus

Albinism is caused by mutation of genes that lead to defect in melanin synthesis. This mutation is inherited through the family.

Types of albinism include:

• Oculocutaneous albinism; causes white or hypopigmentation of skin, hair, and eyes. The hypopigmentaion is usually seen when patients are compared to other family members
• Hermansky-Pudlak syndrome; causes white or hypopigmentation of skin, hair, and eyes along with bleeding and lung problems
• Chediak-Higashi syndrome; Causes white or hypopigmentation of skin, hair, and eyes. It increases susceptibility to infection along with nerve defects and bleeding problems
• Ocular albinism; causes hypopigmentation of eyes, nystagmus, strabismus, decreased visual acuity, and photophobia

Individuals with familial history of albinism are at risk of albinism

• If you notice skin changes, they might be possible developing skin cancer
• If you notice a change in your vision or light sensitivity

Genetic testing is the most definite test for diagnosis. Additionally, ophthalmology examination is considered for evaluation of eye features.

The treatment options include:

• Avoidance of prolonged sun exposure
• Sunglasses with UV protection for light sensitivity
• Upon sun exposure, application of sunscreen with at least SPF 30+ every 2 hours is recommended
• Glasses to correct vision problems and eye position
• Eye muscle surgery for severe strabismus

• Chédiak-Higashi syndrome
• Tuberous sclerosis
• Hermansky-Pudlak syndrome
• Waardenburg syndrome

Directions to Hospitals Treating Albinism

People with a family history of albinism should consider genetic counseling before pregnancy

Patient with albinism has normal life expectancy

• Decreased visual acuity
• Skin cancer

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