The ocular hypopigmentation and visual function deficits in Chediak-Higashi syndrome resembles that of other types of albinism. The iris has transillumination defects and the retina is hypopigmented. Patients are photophobic and often have nystagmus. Due to the early mortality of many patients, vision is difficult to measure, but is said to range from normal to near normal. Hair bulb incubations studies show normal pigmentation.
A subset of patients with later onset of disease has been reported to have optic atrophy, thinning of the nerve fiber layer, and a central scotoma.