Albinism

Diagnosis

Diagnosis of albinism is based on:

• A physical exam that includes checking skin and hair pigmentation.
• A thorough eye exam.
• 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, frequent or large bruises, or unexpected infections.

A specialist in vision and eye disorders called an ophthalmologist usually should do your child's eye exam. The exam includes an assessment using tools to look at the retina and determine if there are signs of problems with eye development or function.

Genetic testing can help determine the type of albinism and the risk of passing down the gene change to children.

Treatment

Albinism is a genetic disorder, and there is currently no cure. Treatment focuses on getting proper eye care and monitoring skin for problems. Your care team may include your primary care provider, a specialist in eye care called an ophthalmologist and a specialist in skin care called a dermatologist.

A specialist in genetics can help identify the specific type of albinism. This information can help guide care, identify possible complications and determine the risk of the condition in future children.

Treatment usually includes:

• Eye care. This includes receiving an eye exam at least every year by an ophthalmologist. You'll likely need prescription lenses to help with visions problems. Although surgery is rarely part of treatment for eye problems related to albinism, your ophthalmologist may recommend surgery on eye muscles to reduce nystagmus. Surgery to correct strabismus may make the condition less noticeable.
• Skin care and prevention of skin cancer. This includes receiving a skin exam at least every year to screen for skin cancer or spots that can lead to cancer. An aggressive form of skin cancer called melanoma can appear as pink or red moles or growths. Moles or growths, with or without color — especially ones that are pink or red and keep changing — should be checked by a skin specialist right away.

People with Hermansky-Pudlak or Chediak-Higashi syndromes usually need regular specialized care for medical problems and to prevent complications.

Lifestyle and home remedies

You can help your child learn self-care practices that should continue into adulthood:

• Use low vision aids, such as a hand-held magnifying glass, a telescope or a magnifier that attaches to glasses. Another aid is a tablet connected to a digital whiteboard in the classroom. This is an interactive electronic board with a touch screen.
• 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 lengthy sun exposure. Examples include being outside for long periods of time or in the middle of the day, at high altitudes, on or near water, and on sunny days with thin cloud cover.
• Wear protective clothing, including clothes with color. Examples include long-sleeve, collared shirts, long pants and socks; broad-brimmed hats; and special UV-protection clothing.
• Protect eyes by wearing dark, UV-blocking sunglasses. Another option is transition lenses called photochromic lenses, which darken in bright light.

Coping and support

Making school or work changes

If your child has albinism, begin early to work with teachers and school leaders to find ways to help your child adapt to classroom learning. If necessary, start with educating the school staff about albinism and how it affects your child. Ask what services the school offers to assess and meet needs.

Changes to the classroom 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 at the front of the room, if your child wants 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 colored print or paper.
• Making the font size bigger on a computer screen.
• Avoiding bright light.
• Allowing extra time for taking tests or reading material.

Many of these same changes can be made in the work setting. Consider educating supervisors and co-workers in the workplace to help them understand any needs.

Coping with emotional and social issues

Help your child develop skills to deal with other people's reactions to albinism. For example:

• Encourage your child to talk to you about experiences and feelings.
• Practice responses to teasing or embarrassing questions.
• Find a peer support group or online community through agencies such as the National Organization for Albinism and Hypopigmentation (NOAH).
• Talk to a mental health professional who can help you and your child develop healthy communication and coping skills, if needed.