Tests and diagnosisBy Mayo Clinic staff
A complete diagnostic work-up for albinism includes a:
- Physical examination
- Description of changes in pigmentation
- Thorough examination 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) will 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 test called an electroretinogram, which measures brain waves produced when light is shined into the eyes, 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 may affect skin pigmentation, but these wouldn't cause all of the visual problems associated with albinism.
- Hornyak TJ. Albinism and other genetic disorders of pigmentation. In: Wolff K, et al. Fitzpatrick's Dermatology in General Medicine. 7th ed. New York, N.Y.: The McGraw-Hill Companies; 2008. http://www.accessmedicine.com/content.aspx?aID=2959771. Accessed Feb. 21, 2011.
- Albinism. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merckmanuals.com/professional/print/sec10/ch123/ch123b.html. Accessed Feb. 19, 2011.
- Gronskov K, et al. Oculocutaneous albinism. Orphanet Journal of Rare Diseases. 2007;2:43.
- What is albinism? National Organization for Albinism and Hypopigmentation (NOAH). http://www.albinism.org/publications/2010/What_is_Albinism.pdf. Accessed Feb. 19, 2011.
- Summers CG. Albinism: Classification, clinical characteristics, and recent findings. Optometry and Vision Science. 2009;86:659.
- Oculocutaneous albinism. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism/show/print. Accessed Feb. 21, 2011.