Albinism

Overview

Albinism is an inherited condition in which the body cannot produce enough of a pigment called melanin. Melanin is the substance that gives skin, hair, and eyes their color. It also plays an important role in protecting the eyes and skin from sun damage.

Albinism is not just a condition that affects appearance. Melanin deficiency directly affects the development of vision. For this reason, nearly all people with albinism have various vision problems. Vision problems are the most important medical aspect of albinism.

Albinism can occur in all races and ethnic backgrounds. It is estimated to affect roughly one in 20,000 people worldwide. The vast majority of people with albinism live normal lives. Areas that do require attention, however, include the risk of skin cancer, vision problems, and social challenges encountered in some communities.

Types

There is more than one type of albinism, and these types have different characteristics.

The most common type is oculocutaneous albinism (OCA). In this type, the skin, hair, and eyes are all affected. OCA is itself divided into subtypes, and each subtype stems from a different gene mutation. The amount of pigment varies across a wide spectrum, from none at all to very little.

Ocular albinism, which affects only the eyes, is rarer. In this type, skin and hair color may be normal or close to normal, but there is a melanin deficiency in the eyes and vision problems develop.

Some rare syndromes, such as Hermansky-Pudlak syndrome and Chediak-Higashi syndrome, can cause additional health problems such as bleeding disorders or immune system problems alongside albinism.

Symptoms

The most noticeable symptoms of albinism are changes in skin, hair, and eye color, along with vision problems.

• Skin and hair color. In people with albinism, skin and hair color can range from very light to close to normal. In some people, the skin is completely white and the hair is very light blond or white. In others, skin and hair color appear very close to normal and albinism may not be noticeable from the outside. Skin color can change very slightly with age — freckles or spots may develop in areas exposed to the sun.
• Eye color. Eyes can be light blue, gray, or brown shades. Eyes that contain very little melanin can sometimes appear reddish or violet — this is due to light reflecting off blood vessels in the retina.
• Vision problems. This is the most important medical aspect of albinism. Nearly all people with albinism have vision problems. Nystagmus (involuntary shaking of the eyes), strabismus, severe myopia or hyperopia, extreme sensitivity to light (photophobia), and poor visual acuity are the most common problems. These issues stem from melanin's critical role in the development of the retina and optic nerve.

When to See a Doctor

Albinism is usually noticed at birth or in early childhood. In some cases, however, the picture can be less obvious.

• If your child's eyes show involuntary shaking, crossed eyes, or extreme sensitivity to light, see an eye doctor.
• If there is a family history of albinism and a new baby has been born, genetic counseling and early evaluation are recommended.
• If a person with a diagnosis of albinism develops a new spot on the skin that changes or does not heal for a long time, a dermatology evaluation should be done.

Causes

Albinism develops as a result of mutations in genes that affect melanin production. Different mutations in different genes involved in the melanin production chain lead to different types of the condition.

The condition is inherited in an autosomal recessive pattern. This means that a faulty gene must be inherited from both parents for albinism to occur. People who inherit a faulty gene from only one parent are carriers and generally show no symptoms. Each child of two carrier parents has a one-in-four chance of developing the condition.

Ocular albinism shows X-linked inheritance and affects almost exclusively males. Mothers can be carriers and may have mild eye findings.

Diagnosis

Albinism is usually diagnosed through clinical examination. Assessment of skin, hair, and eye color, along with examination of eye findings, forms the basis of diagnosis.

The diagnosis of albinism is based on the following criteria:

• Eye examination. This is the most valuable step in diagnosing albinism. Nystagmus, strabismus, foveal hypoplasia (underdevelopment of the central part of the retina), and abnormalities in the optic nerve pathways are assessed. These findings help distinguish albinism from other vision problems.
• Genetic testing. Genetic testing can be performed to confirm the diagnosis, determine the type of albinism, and assess the risk for family members. It is also important for understanding whether additional problems such as Hermansky-Pudlak or Chediak-Higashi syndrome are present.
• Electroretinogram and visual evoked potential testing. These are advanced tests used to assess the function of the retina and optic nerve pathways. They are helpful in demonstrating optic pathway abnormalities specific to albinism.

Treatment

There is no definitive cure for albinism. Melanin production cannot be increased or normalized. Treatment focuses on managing vision problems and protecting the skin from the sun.

Treatment typically includes:

• Eyeglasses and contact lenses. These are used to correct myopia, hyperopia, and astigmatism. Special color filters or photochromic lenses can be helpful for light sensitivity.
• Eye surgery. Surgery may be considered in some cases for nystagmus or strabismus. These operations do not improve visual acuity, however — they are aimed at improving eye movements and appearance.
• Low vision aids. For people with reduced visual acuity, magnifiers, special reading glasses, and screen magnification software can make daily life easier. Vision rehabilitation specialists provide guidance in this area.
• Sun protection. Melanin deficiency leaves the skin extremely vulnerable to sun damage. Using high-factor sunscreen (SPF 50 or higher), wearing sunglasses, and wearing protective clothing on every outing are essential for reducing the risk of skin cancer.
• Regular dermatology follow-up. The risk of skin cancer is significantly higher in people with albinism. At least one dermatology examination per year and regular monitoring of skin changes are recommended.

Living with Albinism

Albinism is a lifelong condition. With the right support and precautions, however, the vast majority of people with albinism lead independent and fulfilling lives.

• Prioritize eye health. Regular eye examinations are critical for closely monitoring vision problems and intervening when needed. Vision support started early in childhood has a positive effect on development.
• Make sun protection a habit. Sunscreen, protective clothing, and wide-brimmed hats are tools that should be used every day. UV rays can be harmful even on cloudy days.
• Seek support in education and work life. Some adjustments may be needed at school or in the workplace because of vision problems. Large-print materials, special lighting, and screen magnification software can help during this process. Learning about your legal rights makes it easier to request the support you need.
• Social and psychological support. People with albinism may sometimes attract attention or encounter social pressure because of their appearance. This can be particularly challenging during childhood and adolescence. Family support, psychological counseling, and connecting with albinism organizations provide a strong source of support during this process.
• Albinism in sub-Saharan Africa. In some African countries, people with albinism can be subjected to violence and discrimination. International human rights organizations keep this issue on the agenda. The safety and rights of people with albinism are a global health and human rights matter.

Preparing for Your Appointment

What you can do:

• Note when vision problems were noticed and how they have progressed.
• Mention any family history of albinism or vision problems.
• Bring your current eyeglass or contact lens prescription.
• Note any concerns you have about your skin.
• Write your questions down in advance.

Questions you can ask your doctor:

• What type of albinism is present?
• What is the best treatment for my vision problems?
• What can I do to reduce my risk of skin cancer?
• What accommodations might be recommended for my child's school life?
• Should we have genetic counseling?
• How often do I need to be monitored?

Your doctor may ask you:

• Is there a family history of albinism?
• When were vision problems noticed?
• Does light sensitivity affect daily life?
• Is sun protection being used consistently?
• Have any worrying changes in the skin been noticed?
• Are there vision-related difficulties at school or work?