Albinism

What albinism is

Melanin is made by cells called melanocytes. In albinism, a gene change disrupts melanin production, so melanocytes are present but produce little or no pigment. Melanin also guides how the nerve fibers from the eyes connect to the brain and how the retina develops, which is why vision is always affected.

Albinism is found in all ethnic groups. In the US and Europe it affects about 1 in 18,000 to 20,000 people. It is more common in some parts of sub-Saharan Africa.

Types of albinism

Oculocutaneous albinism (OCA)

Affects the skin, hair and eyes. It is inherited in an autosomal recessive pattern: both parents carry one copy of the gene, and each child has a 1 in 4 chance of having albinism.

• OCA1: changes in the tyrosinase gene. In OCA1A there is no melanin at all, with white hair, very pale skin and light blue eyes for life. In OCA1B some pigment develops over time.
• OCA2: the most common type worldwide, especially in Africa. Some pigment is made, so hair may be yellow or light brown.
• OCA3 and OCA4: less common; varying amounts of pigment.

Ocular albinism

Mainly affects the eyes, with near-normal skin and hair color. The most common form is X-linked, so it affects mainly boys, and mothers are carriers.

Syndromes with albinism

• Hermansky-Pudlak syndrome: albinism with bleeding problems and, in some types, lung scarring and bowel inflammation. More common in people of Puerto Rican descent.
• Chediak-Higashi syndrome: albinism with immune problems and recurrent infections.

Symptoms

Skin and hair

• very light skin that burns easily and does not tan
• white, yellow or light brown hair
• freckles or moles, which may be pink because they lack pigment

Eyes

Everyone with albinism has some visual impairment:

• Reduced vision: acuity ranges from near normal to legally blind, often around 20/60 to 20/400
• Nystagmus: involuntary side-to-side eye movements, often noticed at 3 to 8 weeks of age
• Light sensitivity (photophobia) and glare
• Strabismus: misaligned eyes
• Reduced depth perception
• Refractive errors such as nearsightedness, farsightedness and astigmatism
• Iris translucency: light shines through the iris, and eyes may look reddish in some lighting
• Foveal hypoplasia: underdevelopment of the central retina

Diagnosis

Albinism is usually recognized at birth or in infancy from light pigmentation and eye findings. An ophthalmologist examines the iris, retina and eye movements. Special testing (visual evoked potentials) can show the abnormal nerve wiring. Genetic testing confirms the type, which helps with family planning and identifying syndromes such as Hermansky-Pudlak.

Managing albinism

Vision

• Glasses or contact lenses to correct refractive errors
• Low-vision aids: magnifiers, tablet zoom, large print, telescopic glasses for distance
• Tinted lenses and sunglasses for glare
• Surgery for strabismus in some cases
• School support: seating near the board, enlarged materials and extra time. In the US, children qualify for an Individualized Education Program (IEP) or 504 plan
• Driving is possible for some adults, depending on local vision rules

Skin

• Sun protection every day, even when cloudy: broad-spectrum SPF 30 or higher sunscreen, reapplied every 2 hours outdoors
• UPF clothing, long sleeves and wide-brimmed hats
• Avoid midday sun
• Regular skin checks by a dermatologist, typically yearly, for skin cancer and precancerous spots. Squamous cell carcinoma is the most common type in albinism

Emotional and social support

People with albinism may face teasing, discrimination and, in some regions, serious violence and stigma. Support groups such as NOAH connect families and adults with albinism.

Outlook

Albinism does not affect intelligence or life expectancy in most types. With sun protection and good vision support, people with albinism attend school, work and live independently. Outlook in Hermansky-Pudlak and Chediak-Higashi syndromes depends on the associated health problems.

Frequently asked questions

What causes albinism?

Albinism is caused by changes in genes that control melanin production. Most types are inherited when both parents pass on a copy of the altered gene, even though the parents themselves usually have normal pigmentation. Ocular albinism is often passed from carrier mothers to sons.

Do all people with albinism have red eyes?

No. Most people with albinism have blue, gray, hazel or light brown eyes. Eyes can look red or violet in certain light because light reflects off blood vessels at the back of the eye through the lightly pigmented iris.

Can albinism be cured?

There is no cure, because it is genetic. Treatment focuses on protecting the skin from the sun, maximizing vision with glasses and low-vision aids, and regular checks for skin cancer and eye problems.

Why do people with albinism have poor eyesight?

Melanin is needed for the normal development of the retina, especially the fovea that gives sharp central vision, and for correct routing of nerve fibers from the eyes to the brain. Without enough melanin, these structures develop differently, causing reduced vision and nystagmus.