Albinism: an update and review of the literature.

BACKGROUND

Albinism can be a diagnostic challenge to the optometrist, with ocular albinism the entity most likely to be overlooked or misdiagnosed. Albinism should be suspect in a child with nystagmus.

METHODS

Albinism is best diagnosed by electron microscopy of skin or hair bulbs. Measuring the flash visually evoked response (VER) is the best way to confirm the abnormal decussation of the optic nerve fibers. Transillumination of the iris can be performed to see if it lacks pigment on its posterior surface. Optometrists should also be alert for nystagmus, strabismus, lack of stereopsis, and poor fusional capacity. Most people with albinism have photophobia and reduced acuity, and many have defective hearing.

RESULTS

This review describes the various kinds of albinism and summarizes associated ocular manifestations with pertinent forms of the disorder.

CONCLUSIONS

Optometrists are responsible for detection of albinism and provision of optical aids and related advice to afflicted patients. These patients also need appropriate counselling and genetic studies of family members.