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.
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).
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)
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
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.
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.
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.
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.
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.
Albinism is a lifelong condition, but it does not get worse over time.
Complications of albinism include the following:
Sunburns
Increased risk of skin cancer
Educational delays due to vision issues that make reading difficult
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.
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.
