Visual and auditory anomalies in Chediak-Higashi syndrome

Albinism is correlated with misrouting of decussating retinal fibers in the brain. There is also evidence of anomalies of decussating auditory pathways in albinos. The Chediak-Higashi syndrome (CHS) is a rare form of partial albinism which includes increased susceptibility to infections, a hemorrhagic tendency and peripheral polyneuropathies. Binocular and monocular pattern-onset visually evoked potentials (VEPs) and monaural auditory brain stem responses (ABRs) were recorded from 4 subjects with CHS. Three of the CHS demonstrated asymmetric monocular VEPs and failed the Titmus stereovision test. All 4 CHS produced asymmetric ABRs similar to those reported for albinos. Although the hair, skin and irises are relatively well pigmented in CHS, these individuals apparently have anomalies of their central visual and auditory pathways.