Albinism (patient information)

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shadan Mehraban, M.D.[2]

Overview

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:

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

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

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

Patient with albinism has normal life expectancy