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Tests and diagnosis
By Mayo Clinic staffA complete diagnostic workup for albinism will include a physical examination, a description of changes in pigmentation, a pigment history and a thorough examination of the eyes.
A pigment history includes a comparison of your child's pigmentation to that of other family members to determine if your child's is lighter. Your doctor may also ask you about any changes you may have observed in your child's hair, skin or eye color.
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.: McGraw-Hill Professional; 2007. http://www.accessmedicine.com/content.aspx?aID=2959771. Accessed Feb. 23, 2009.
- Wolff K, et al. Pigmentary disorders. In: Wolff K, et al. Fitzpatrick's Color Atlas & Synopsis of Clinical Dermatology. 5th ed. New York, N.Y.: McGraw-Hill Professional; 2005. http://www.accessmedicine.com/content.aspx?aID=751347. Accessed Feb. 23, 2009.
- Oculocutaneous albinism. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=oculocutaneousalbinism. Accessed Feb. 23, 2009.
- Albinism. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/print/sec10/ch123/ch123b.html. Accessed Feb. 25, 2009.
- King RA, et al. Oculocutaneous albinism type 1. Gene Reviews. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=oca1. Accessed Feb. 25, 2009.
- King RA, et al. Oculocutaneous albinism type 2. Gene Reviews. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=oca2. Accessed Feb. 25, 2009.
- TYRP1. Genetics Home Reference. http://ghr.nlm.nih.gov/gene=tyrp1. Accessed Feb. 25, 2009.
- Brilliant MH. Oculocutaneous albinism type 4. Gene Reviews. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=oca4. Accessed Feb. 25, 2009.
- What is albinism? National Organization for Albinism and Hypopigmentation (NOAH). http://www.albinism.org/publications/what_is_albinism.html. Accessed Feb. 23, 2009.
- LYST. Genetics Home Reference. http://ghr.nlm.nih.gov/gene=lyst. Accessed Feb. 25, 2009.
- Albinism. American Association for Pediatric Ophthalmology and Strabismus. http://www.aapos.org/displaycommon.cfm?an=1&subarticlenbr=62. Accessed March 5, 2009.
