What Is Albinism?

What Causes Albinism?

Albinism is caused by genetic variants that affect biological processes involved in the production of melanin. Variants in many different genes can cause different types of albinism.

Albinism is congenital, meaning it is present at birth. It is not contagious and cannot be acquired through physical contact, food, blood, sexual contact, or living with a person with albinism.

How Is Albinism Inherited?

Most forms of albinism are inherited in an autosomal recessive pattern. This means that a child usually inherits one altered copy of the same albinism-related gene from each parent. The parents are typically unaffected carriers and have pigmentation that is typical for their family and ethnic background. This is why a child with albinism can be born to two parents who do not have albinism themselves.

When both parents carry an altered copy of the same gene associated with autosomal recessive albinism, each pregnancy has a 25% chance of resulting in a child with albinism, a 50% chance of resulting in a child who is a carrier (i.e. without albinism but with one altered copy of the gene), and a 25% chance of resulting in a child who does not inherit either altered copy.

Not every form of albinism follows this pattern. The most common form of ocular albinism, for example, is inherited through the X chromosome.

Genetic testing for albinism is available in some countries and can identify many known genetic causes of albinism. However, access varies widely around the world, and no single test can identify every possible genetic cause. If the genetic variant in a family is already known, testing can sometimes determine whether other family members are carriers.

Types of Albinism

Albinism includes a number of genetically distinct conditions. They can broadly be grouped into oculocutaneous albinism, ocular albinism, and syndromic forms of albinism.

Oculocutaneous albinism (OCA) affects the eyes as well as pigmentation of the skin and hair. Several genetic types have been described, including OCA1 through OCA8. The amount of pigmentation and the degree of visual impairment can vary considerably between types and between individuals with the same type.

Ocular albinism (OA) mainly affects the eyes and vision. Changes in skin and hair pigmentation may be very subtle or absent. The most common form is caused by changes in the GPR143, a gene located on the X chromosome. It is inherited in an X-linked pattern and commonly named “X-linked ocular albinism”.

The syndromic forms of albinism include Hermansky-Pudlak Sydrome and Chediak-Hiagashi Syndrome. These genetic conditions affect not only pigmentation and vision but also other parts of the body. Depending on the syndrome, additional health problems may include an increased tendency to bleed, immune system problems, lung disease such as pulmonary fibrosis, bowel disease, or neurological problems.

Different types of albinism can look very similar. Only genetic testing can identify the specific genetic cause and therefore a type of albinism. Although a known molecular cause is not found in every person and genetic testing is only available in some countries.

Is There a Cure for Albinism?

There is currently no cure for the underlying genetic causes of albinism. 

Albinism is best described as a health condition rather than a disease. With adequate sun protection and appropriate skin and eye care, people with albinism generally enjoy good physical health. Many see albinism as part of their identity and do not necessarily seek a cure. Instead, they would like better options to improve their vision and protect their skin from UV radiation.

However, the situation is different for people with syndromic forms of albinism, such as Hermansky–Pudlak syndrome (HPS) and Chediak–Higashi syndrome (CHS). These conditions can cause severe and sometimes life-threatening complications. For those affected, there is an urgent need for better treatments and, ultimately, cures.

The support available differs considerably between countries. Improving access to basic eye care, skin cancer prevention, early diagnosis, and appropriate treatment remains an important global health priority for people with albinism.

Is Albinism a Disability?

Albinism has disabling effects, particularly because of its impact on vision and skin. Low vision affects access to education, employment, transportation, information, and other aspects of daily life. Reduced skin pigmentation increases vulnerability to UV damage and requires lifelong sun protection. It also limits participation in outdoor activities and types of work and increases the risk of skin cancer.

The legal recognition of albinism as a disability varies around the world. In some countries, albinism is explicitly recognized as a disability, while in others, eligibility for disability rights, services, or benefits is based primarily on the degree of visual impairment.

Not every person with albinism identifies as a person with a disability. However, legal recognition of the disabling effects of low vision and increased vulnerability to UV radiation is important for ensuring equal access to education, employment, health care, information, and full participation in society.

Albinism and Mental Health

Albinism does not in itself cause a mental health condition. However, living with albinism can involve social and environmental experiences that affect mental health and wellbeing.

People with albinism may experience stigma, discrimination, bullying, social exclusion, or unwanted attention because of their appearance, low vision, or both. Barriers to education, employment, health care, information, and participation can also contribute to stress and affect quality of life.

Experiences vary widely. Many people with albinism develop a strong and positive sense of identity, while others may experience difficulties related to confidence, belonging, isolation, or the way they are treated by others.