Health ConditionsGenetic Diseases

What Is Albinism?

What Is Albinism?
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Published on April 18, 2025
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Albinism is a rare genetic condition marked by little to none of the pigment melanin, which is responsible for the color in hair, skin, and the irises of the eyes. This results in a range of very pale skin, hair, and eyes. While it does not impact intelligence or lifespan, albinism comes with certain medical complications, such as vision problems and light sensitivity, as well as social challenges.

Albinism affects people from all races worldwide. About 1 in every 17,000 to 20,000 people in the world has it, though its prevalence varies greatly by population and type.

Types of Albinism

There are two main types of albinism:

  • Oculocutaneous Albinism (OCA) The most common type of albinism, OCA affects the skin, hair, and eyes. There are many subtypes of OCA (OCA1 through OCA7), which are caused by different genetic changes resulting in specific pigmentation features.
  • Ocular Albinism (OA) Far less common than OCA, OA primarily affects the eyes. A person with OA may have similar coloring or slightly lighter skin, hair, and eye color than their family members, but eye exams will reveal no coloring in the retina (the light-sensitive tissue in back of the eye).

Signs and Symptoms of Albinism

While the lack of pigment can affect the skin and hair, it most severely affects the eyes. Without melanin, the retina and optic nerves, which help relay information from the eyes to the brain, may not develop properly, causing a wide range of eye and vision problems that are not completely correctable with glasses:

  • Nystagmus, a regular horizontal back-and-forth movement of the eyes
  • Strabismus (misaligned eyes), where the eyes are facing in different directions
  • Sensitivity to bright light or glare (photophobia)
  • Refractive errors, especially astigmatism but also nearsightedness and farsightedness
  • Reduced depth perception
  • Blurry or distorted vision, with vision acuity ranging from 20/25 to 20/400

Additionally, without melanin, the skin becomes sensitive to sunlight and burns easily.

How albinism affects the particular color or tone of your skin, hair, and eyes (if at all) depends on the type of OCA you have and how much melanin your body produces:

  • OCA1-A A complete absence of melanin; white skin and hair and very light-colored irises that may appear pink or red due to the way that light reflects off the blood vessels in the retina
  • OCA1-B “Yellow OCA”; creamy to tan skin with light birthmarks and freckles, yellow to light brown hair, and eyes that are blue, green, hazel, or light brown
  • OCA2 Creamy white or tan skin, often with birthmarks and freckles; yellow, blond, or light brown hair; and blue, hazel, brown, or gray eyes
  • OCA2-Brown Brown skin, hair, and eyes that are relatively lighter in shade compared with family members
  • OCA3 Brown to reddish brown (copper) skin, ginger (red to reddish yellow) hair, and hazel or light brown eyes
  • OCA4 Similar to classic OCA2
  • OCA5 White skin and golden hair
  • OCA6 Similar to OCA4, with light skin and hair that darkens with age
  • OCA7 Light blond to dark brown hair with skin that appears lighter only when compared with family members

Causes and Risk Factors of Albinism

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

Oculocutaneous albinism is inherited in an autosomal recessive pattern, meaning a child must inherit a mutated gene from both parents to develop it. The mutated genes associated with OCA include the following:


  • TYR (OCA1)
  • OCA2 (OCA2)
  • TYRP1 (OCA3)
  • SLC45A2 (OCA4)
  • SLC24A5 (OCA6)
  • LRMDA (OCA7)

There is no gene associated with OCA5.

Ocular albinism is X linked, meaning the inherited gene — GPR143 — is located on the X chromosome and passed from mothers (who carry it without having albinism) to their sons.

How Is Albinism Diagnosed?

Albinism’s effects on skin, hair, and eye color may be evident at birth, allowing healthcare providers to diagnose the condition early. However, families may not always be aware of pigmentation differences if they are not in stark contrast with other family members. Most often, caregivers and providers suspect albinism only after eye- or vision-related symptoms become apparent.

To diagnose albinism, your provider will look for telltale signs of it with a physical exam and thorough eye exam. An ophthalmologist will also inspect your retina for signs of abnormal development.

Diagnosis of albinism typically includes a review of your medical and symptom history. This important step helps rule out or suggest genetic syndromes like Hermansky-Pudlak and Chediak-Higashi syndromes. Both genetic conditions feature albinism along with various other symptoms.

Your provider may also order genetic tests, which are the most accurate diagnostic tool for albinism and the only way to determine what specific type of albinism you have.

Treatment and Medication Options for Albinism

There is no cure for albinism. Treatment focuses on managing symptoms and reducing risks of complications.

Prescription glasses can help correct refractive errors, improve visual acuity, and reduce light sensitivity to some degree (though even with corrective lenses, vision may never fully normalize). Bifocals and low-vision aids such as handheld magnifiers may help, too.

Nystagmus may naturally decrease over time. It’s possible to adjust your head posture to reach the nystagmus null point, the position at which the abnormal eye movement is at a lower intensity than in other directions of gaze. In severe cases, some people benefit from eye muscle surgery to shift the null point to a more natural position. Surgery can also help correct strabismus.

There are no approved medications for treating albinism, but researchers are investigating a few options.

A small pilot study suggested that the drug nitisinone (Nityr, Orfadin) can increase melatonin production in people with OCA1-B. Most study participants showed a slight darkening of their skin and hair, but no apparent changes in their eye melanin or visual acuity.

And a study in mice found that the amino acid L-DOPA (levodopa) can help support retinal development in newborns with albinism when given within 15 days of birth.

Prevention of Albinism

Because albinism is a genetic condition, there is no way to prevent it. However, genetic counseling can help families understand the risks of passing it on to children.

Lifestyle Changes for Albinism

Routine eye and skin care — especially limiting sun exposure and getting regular eye and skin exams — is vital if you have albinism. You’ll also benefit from these aids:

  • Corrective lenses
  • Dark, UV-protective sunglasses or transition lenses
  • Wide-brimmed hats to reduce overhead glare and provide sun protection for the face
  • Sun-protective clothing, such as long-sleeve shirts and long pants, with SPF 15 or more (synthetic materials like polyester block ultraviolet radiation better than natural fibers)

  • Broad-spectrum sunscreen with SPF 30 or higher, applied liberally at least every two hours when in the sun

Classroom aids can help children with albinism learn better in school:

  • High-contrast written and digital material with large text

  • Magnifying and telescoping lenses
  • Audio recordings of instructions
  • Beneficial seating (front of the class) and lighting arrangements

  • Copies of the teacher’s notes

Additionally, peer support groups can help both children and adults deal with feelings of isolation, learn positive attitudes and coping skills, and gather valuable resources and information about albinism.

How Long Does Albinism Last?

Albinism is a lifelong condition, but it does not get worse over time.

Complications of Albinism

Complications of albinism include the following:

  • Sunburns
  • Increased risk of skin cancer
  • Educational delays due to vision issues that make reading difficult

  • Inability to drive due to legal blindness
  • Social stigma and discrimination

Research and Statistics: Who Has Albinism?

The prevalence of albinism differs depending on population and type. Approximately 1 in 70 individuals carry a mutated gene for OCA, with OCA2 being the most common genetic cause worldwide. In the United States, 1 in every 36,000 people have OCA2, and it is most common in people with African ancestry, affecting 1 in 10,000 people.

Oculocutaneous albinism tends to be more common in consanguineous populations — those that allow relationships between blood relatives — such as in certain areas of Africa. And one type, OCA7, has only been found in the Faroe Islands and in Denmark.

About 1 in 50,000 people are born with OC around the world.

Related Conditions Albinism

Albinism may also be a feature of a genetic syndrome:

  • Hermansky-Pudlak syndrome, which causes increased bleeding (from platelet dysfunction) and issues with the immune system and various organs

  • Chediak-Higashi syndrome, which causes recurrent infections, coagulation defects, and a form of nerve damage called peripheral neuropathy

  • Angelman syndrome, which causes developmental problems, issues with walking and balance, and severe speech impairment, as well as an overall excitable and happy demeanor despite these challenges

  • Prader-Willi syndrome, which causes developmental problems, musculoskeletal abnormalities, and hyperphagia (an intense desire to eat that can lead to obesity and type 2 diabetes)

Albinism may occur in Angelman syndrome or Prader-Willi syndrome because these conditions can be caused by a deletion of the region of chromosome 15 that contains the OCA2 gene.

The Takeaway

  • Albinism is a genetic condition that affects pigmentation and vision but does not impact intelligence or lifespan.
  • While albinism can be a challenging condition to live with, various treatments and lifestyle changes can help prevent complications and improve quality of life.
  • With the right medical care, sun protection, and supportive communities, people with albinism can lead full, healthy lives.

Common Questions & Answers

Is albinism contagious?
No, albinism is a genetic condition, meaning it is inherited from your parents.
Most people with albinism actually have blue, gray, or hazel eyes. They may appear pink or red because lack of pigment in the eye makes it more transparent, exposing underlying blood vessels that reflect light.
Albinism can cause various problems affecting the eyes and vision, such as misaligned eyes, astigmatism, and poor visual acuity. It also makes the skin sensitive to sunlight and UV radiation.
Yes, there are two broad types: ocular albinism, which predominantly affects the eyes, and oculocutaneous albinism, which affects the eyes, skin, and hair.

Resources We Trust

EDITORIAL SOURCES
Everyday Health follows strict sourcing guidelines to ensure the accuracy of its content, outlined in our editorial policy. We use only trustworthy sources, including peer-reviewed studies, board-certified medical experts, patients with lived experience, and information from top institutions.
Resources
  1. Federico JR et al. Albinism. StatPearls. August 14, 2023.
  2. Albinism. MedlinePlus. December 31, 2023.
  3. Porter D. What Is Albinism? American Academy of Ophthalmology. September 9, 2024.
  4. Marçon CR et al. Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors. Anais Brasileiros de Dermatologia. September–October 2019.
  5. Thomas MG et al. Oculocutaneous Albinism and Ocular Albinism Overview. GeneReviews. April 13, 2023.
  6. Nystagmus. American Academy of Ophthalmology. November 27, 2024.
  7. Nitisinone increases melanin in people with albinism. National Institutes of Health. February 20, 2019.
  8. Sanchez-Bretano A et al. Human equivalent doses of l-DOPA rescues retinal morphology and visual function in a murine model of albinism. Scientific Reports. October 11, 2023.
  9. Use These Simple Clothing Tips for Sun Protection. University of Kentucky Martin-Gatton College of Agriculture, Food, and Environment. June 13, 2024.
  10. Albinism. Patient. September 15, 2024.
  11. Hermansky Pudlak Syndrome. National Organization for Rare Disorders. June 14, 2023.
  12. Ajitkumar A et al. Chediak-Higashi Syndrome. StatPearls. July, 24, 2023.
  13. What Is Angelman Syndrome. Angelman Syndrome Foundation.
  14. Dagil AI et al. Angelman Syndrome. GeneReviews. April 22, 2021.
  15. Gutierrez MAF et al. Prader-Willi Syndrome. StatPearls. February 26, 2024.
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Anna C.E. Hurst, MD, MS, FACMG

Medical Reviewer
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Anna C. E. Hurst, MD, is a medical geneticist with board certification in clinical genetics and pediatrics. She is an associate professor in the department of genetics at University of Alabama at Birmingham (UAB) and an adjunct faculty member at the HudsonAlpha Institute for Biotechnology. Prior to medical school, she received a master’s degree in genetic counseling, which inspired her interest in the communication of genetic information to patients and families with rare diseases.

Dr. Hurst is a physician for the UAB Undiagnosed Disease program, Turner syndrome clinic, and general genetics clinic, and she provides hospital consultations for inpatients at UAB and Children’s of Alabama for general genetics and inborn errors of metabolism. She also is the medical geneticist for the Smith Family Clinic for Genomic Medicine in Huntsville, Alabama.

Hurst's research focuses on expanding the availability of genomic sequencing for children with complex healthcare needs. She also has an interest in how the patient’s physical exam and facial features can be clues to a rare disease diagnosis (dysmorphology) and serves on the scientific advisory board of Facial Dysmorphology Novel Analysis. She has published over 45 peer-reviewed articles in the field of medical genetics, largely focused on the clinical delineation of rare disease phenotypes. She also serves as an associate editor for the American Journal of Medical Genetics.

Hurst is also passionate about education and serves as the program director of the UAB genetics residency programs (categorical, pediatrics-genetics, and internal medicine-genetics) and medical director of the UAB Genetic Counseling Training program. She is an officer with the Association of Professors in Human Medical Genetics.
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