Everything you need to know about albinism

Albinism is a group of inherited disorders where there is little or no production of the pigment melanin. Melanin also plays a role in the development of optic nerves, so people with albinism have vision problems.

Signs of albinism show in a person’s skin, hair and eye colour, but sometimes differences are slight.

People with albinism are also sensitive to the effects of the sun, so they are at increased risk of developing skin cancer.

There is no cure but people with the disorder can take steps to protect their skin and eyes and maximise their vision.

Melanin is produced by cells called melanocytes, which are found in your skin, hair and eyes. Albinism is caused by a mutation in one of these genes.

Different types of albinism can occur, based mainly on which gene mutation caused the disorder. The mutation may result in no melanin at all or a significantly reduced amount of melanin.

People with albinism may experience bullying, teasing or probing questions about their appearance, eye wear or visual aid devices. They usually look different from members of their own families or ethnic groups, so they may feel like or be treated like outsiders. These experiences may contribute to social isolation, poor self-esteem and stress.

Using the term “person with albinism” is preferred to avoid the stigma of other terms.

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Symptoms of albinism

Skin

The most recognisable form of albinism results in white hair and very light-coloured skin. For some, skin pigmentation never changes. For others, melanin production may begin or increase during childhood and the teen years, resulting in slight changes in pigmentation.

Hair

Hair colour can range from very white to brown. Darker people with albinism may have yellow, reddish or brown hair. Hair colour may also darken by early adulthood or stain from exposure to normal minerals in water and the environment and appear darker with age.

Eye colour

Eyelashes and eyebrows are often pale. Eye colour can range from very light blue to brown and may change with age. The lack of pigment in the coloured part of the eyes (irises) makes the irises somewhat translucent. This means that the irises can’t completely block light from entering the eye. Because of this, very light-coloured eyes may appear red in some lighting.

Vision

Vision impairment is common in many patients.

Eye complications

Problems with vision can impact learning, employment and the ability to drive.

Skin complications

People with albinism have skin that is very sensitive to light and sun exposure.

Sunburn is one of the most serious complications associated with albinism because it can increase the risk of developing skin cancer and sun damage-related thickening of the skin.

Social, emotional challenges

Some people with albinism may experience discrimination. The reactions of other people to those with albinism can often have a negative impact on people with the condition.

Diagnosis

Diagnosis of albinism is based on:

• A physical exam that includes checking skin and hair pigmentation.
• A thorough eye examination.
• Comparison of your child’s pigmentation to that of other family members.
• Review of your child’s medical history, including whether there has been bleeding that doesn’t stop, excessive bruising or unexpected infections.
• A medical doctor specialising in vision and eye disorders (ophthalmologist) should conduct your child’s eye exam.
• The exam includes an assessment of potential nystagmus, strabismus and photophobia.
• The doctor also uses a device to visually inspect the retina and determine if there are signs of abnormal development.

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Treatment

Because albinism is a genetic disorder, it can’t be cured.

• Treatment focuses on getting proper eye care and monitoring skin for signs of abnormalities.
• It is a multi-disciplinary approach which may include your general practitioner, ophthalmologist, dermatologist and genetics specialist.
• The eye care includes receiving an annual eye examination by an ophthalmologist and most likely wearing prescription corrective lenses.
• Although surgery is rarely part of treatment for eye problems related to albinism, your ophthalmologist may recommend surgery on optical muscles to minimise nystagmus.
• Surgery to correct strabismus may make the condition less noticeable.
• Skin care and prevention of skin cancer includes receiving an annual skin assessment to screen for skin cancer or lesions that can lead to cancer.
• An aggressive form of skin cancer called melanoma can appear as pink skin lesions.

Lifestyle and self-help

• Use low-vision aids you can access
• Always use sunscreen with a sun protection factor (SPF) of 30 or greater that protects against both UVA and UVB light.
• Strictly avoid high-risk or prolonged sun exposure, such as being outside for long periods of time or in the middle of the day, at high altitudes and on sunny days with thin cloud cover.
• Wear protective clothing, including clothes with colour, such as long-sleeve, collared shirts, long pants and socks; broad-brimmed hats and special UV-protection clothing.
• Protect eyes wearing dark, UV-blocking sunglasses or transition lenses (photochromic lenses) that darken in bright light.

Adjustments to the classroom or work environment that may help include:

• A seat near the front of the classroom.
• Large-print textbooks or a tablet computer.
• A tablet computer that can be synced to an interactive whiteboard (SMART board) at the front of the room, allowing the child to sit farther back in the classroom.
• Handouts of the content written on boards or overhead screens.
• High-contrast printed documents, such as black type on white paper, rather than using coloured print or paper.
• Enlarging font size on a computer screen.
• Avoiding bright light in the learning or work setting.
• Allowing extra time for taking tests or reading material.

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