Albinism: Causes, Symptoms, and Treatment
Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Albinism?
A dermatologist, a skin doctor, and an ophthalmologist, an eye doctor, usually care for people with albinism. A geneticist, a doctor who treats inherited conditions, can confirm the type. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is albinism?
Albinism is a lack of melanin production. Melanin is a natural substance in the body that gives color to your hair, skin, and the iris of the eye. It is a group of inherited conditions, meaning it is passed down through families. The most severe form is oculocutaneous albinism (OCA). It affects the color of the skin, hair, and eyes. Another type, called ocular albinism type 1, affects only the eyes. With that type, skin and eye color are usually in the normal range. Albinism does not usually affect lifespan.
Symptoms
Skin and hair are very fair. The exact colors depend on the type:
- Type 1 causes white hair, very pale skin, and light-colored irises, the colored parts of the eyes.
- Type 2 is usually milder. The skin is pale, and hair may be light yellow, blond, or light brown.
- Type 3 causes reddish-brown skin, ginger or red hair, and hazel or brown irises. Vision problems are often milder.
Some people have patches of missing skin color. Albinism lowers pigment in the eyes, so vision problems are common. These include:
- Reduced sharpness of vision.
- Nystagmus, which means rapid, involuntary eye movements.
- Strabismus, which means eyes that do not point in the same direction.
- Photophobia, which means sensitivity to light.
Causes and who gets it
Albinism occurs when genetic changes make the body unable to produce or distribute melanin. OCA is inherited in an autosomal recessive pattern. That means both copies of a gene must have a change for a child to have it. Parents who each carry one copy usually have no signs. Changes in four genes, TYR, OCA2, TYRP1, and SLC45A2, cause types 1 to 4. In the retina, the light-sensitive tissue at the back of the eye, melanin plays a role in normal vision. A lack of melanin in the retina leads to the vision problems. Melanin is also crucial for normal visual development during infancy. OCA affects people in all regions of the world. About 1 in 17,000 people worldwide have a form of it.
How doctors diagnose it
Doctors can often diagnose albinism from the appearance of the skin, hair, and eyes. Genetic testing offers the most accurate way to find the specific type. An eye doctor may do an electroretinogram. This is a test that can reveal vision problems related to albinism. A visual evoked potentials test, which measures the brain's response to visual signals, can help when the diagnosis is uncertain.
Treatment
The goal of treatment is to relieve symptoms, and it depends on how severe the disorder is. Care focuses on protecting the skin and eyes from the sun. Avoid the sun when you can, use sunscreen with a high sun protection factor (SPF), and cover up with clothing. Wear UV-protected sunglasses to help with light sensitivity. Glasses are often prescribed to correct vision problems and eye position. Eye muscle surgery is sometimes recommended to correct abnormal eye movements. Researchers are also studying medicines that might raise melanin. In a small NIH study, the drug nitisinone slightly darkened skin and hair in some people with OCA type 1B. It did not clearly change eye pigment or vision, and it is not an approved treatment for albinism.
When to see a doctor
Contact a doctor right away if you notice any skin change that might be an early sign of skin cancer. Long-term sun exposure greatly raises the risk of skin damage and skin cancer, including an aggressive form called melanoma. Also call your doctor if light sensitivity causes discomfort.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. This doctor can check your skin and eyes and help you find specialists. They can also watch your skin over time for changes.
Common questions
What causes albinism?
Genetic changes make the body unable to produce or distribute melanin. The changes are passed down through families. OCA is inherited in an autosomal recessive pattern, so a child needs a changed gene from both parents.
Does albinism affect lifespan?
Albinism does not usually affect lifespan. However, the Hermansky-Pudlak syndrome form can shorten lifespan because of lung disease or bleeding problems.
How is albinism treated?
Treatment focuses on relieving symptoms. It involves protecting the skin and eyes from the sun. Glasses can correct vision problems, and eye muscle surgery is sometimes recommended.
Are researchers studying new treatments?
Yes. In a small NIH study, the drug nitisinone slightly darkened skin and hair in some people with OCA type 1B. It did not clearly change eye pigment or vision. It is not an approved treatment for albinism.
Sources
- MedlinePlus Genetics - Oculocutaneous albinism
- MedlinePlus - Albinism
- National Eye Institute - Nitisinone Increases Melanin in People With Albinism
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
