Diagnosis

A complete diagnostic work-up for albinism includes a:

  • Physical exam
  • Description of changes in pigmentation
  • Thorough exam of the eyes
  • Comparison of your child's pigmentation to that of other family members

A medical doctor specializing in vision and eye disorders (ophthalmologist) should conduct your child's eye exam. The exam will include an assessment of potential nystagmus, strabismus and photophobia. The doctor will also use a device to visually inspect the retina and determine if there are signs of abnormal development. A simple test can measure the brain waves produced when light or a reversing pattern is flashed into each eye. This can indicate the presence of misrouted optical nerves.

If your child has only one eye impairment, such as nystagmus, another condition may be the cause. Disorders other than albinism can affect skin pigmentation, but these don't cause all of the visual problems associated with albinism.

Treatment

Because albinism is a genetic disorder, treatment is limited. But getting proper eye care and monitoring skin for signs of abnormalities are especially important to your child's health.

  • Your child will most likely need to wear prescription lenses, and he or she should receive annual eye exams by an ophthalmologist. Although surgery is rarely part of treatment for albinism, your ophthalmologist may recommend surgery on optical muscles to minimize nystagmus. Surgery to correct strabismus may make the condition less noticeable, but it won't improve vision.
  • Your doctor should conduct an annual assessment of your child's skin to screen for skin cancer or lesions that can lead to cancer. Adults with albinism need annual eye and skin exams throughout their lives.

People with Hermansky-Pudlak and Chediak-Higashi syndromes usually require regular specialized care to prevent complications.

Clinical trials

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this disease.

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 monocular or a magnifier that attaches to glasses.
  • Apply sunscreen with a sun protection factor (SPF) of at least 30 that protects against both UVA and UVB light.
  • Avoid high-risk sun exposure, such as being outside in the middle of the day, at high altitudes, and on sunny days with thin cloud cover.
  • Wear protective clothing, including long-sleeved shirts, long pants and broad-rimmed hats.
  • Protect eyes by wearing dark, UV-blocking sunglasses or transition lenses that darken in bright light.

Coping and support

Coping with vision impairment

Many people with albinism develop coping skills to adjust to vision impairments. Tilting the head to one side may minimize the effect of nystagmus and improve vision. Holding a book very close can make it easier to read without causing any harm to the eyes.

Coping with educational challenges

Despite visual handicaps and abnormal optic nerve pathways, children with albinism are developmentally normal. If your child has albinism, begin early to work with teachers and school administrators to facilitate measures to help your child adapt. These may include sitting in the front of the class, using large-print books or a tablet computer for learning, avoiding bright light in the learning setting, or allowing more time for taking tests.

If necessary, start with educating the school professionals about what albinism is and how it affects your child. Also ask about services the school can provide to assess your child's needs.

Adjustments to the classroom environment that may help your child include:

  • A seat near the front of the classroom
  • 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 colored print or paper
  • Large-print textbooks
  • Other options, such as showing the child how to enlarge font size on a computer screen

Coping with teasing and social isolation

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

  • 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). You can reach NOAH at 800-473-2310.
  • Seek the services of a mental health professional, who can help you and your child develop healthy communication and coping skills.
April 19, 2014
References
  1. Wolff K, et al. Fitzpatrick's Dermatology in General Medicine. 8th ed. New York, N.Y.: The McGraw-Hill Companies; 2012. www.accessmedicine.com/resourceTOC.aspx?resourceID=740. Accessed Nov. 21, 2013.
  2. Albinism. The Merck Manuals: The Merck Manual for Health Care Professionals. http://www.merckmanuals.com/professional/dermatologic_disorders/pigmentation_disorders/albinism.html?qt=&sc=&alt=. Accessed Nov. 21, 2013.
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  4. What is albinism? National Organization for Albinism and Hypopigmentation (NOAH). http://www.albinism.org/publications/2010/What_is_Albinism.pdf. Accessed Nov. 21, 2013.
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