Tests and diagnosisBy Mayo Clinic Staff
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.
April 19, 2014
- 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.
- 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.
- Levin AV, et al. Albinism for the busy clinician. Journal of AAPOS. 2011;1:59.
- What is albinism? National Organization for Albinism and Hypopigmentation (NOAH). http://www.albinism.org/publications/2010/What_is_Albinism.pdf. Accessed Nov. 21, 2013.
- Summers CG. Albinism: Classification, clinical characteristics and recent findings. Optometry and Vision Science. 2009;86:659.
- Gronskov K, et al. Oculocutaneous albinism. Orphanet Journal of Rare Diseases. 2007;2:43.
- Brodsky MC (expert opinion). Mayo Clinic, Rochester, Minn. Dec. 15, 2013.
- Hand JL (expert opinion). Mayo Clinic, Rochester, Minn. Dec. 13, 2013.