Purpose: To report our retrospective study of 20 cases with lissencephaly and describe ocular and visual abnormalities associated with this disorder.
Methods: Patients with lissencephaly were identified and classified into classic (type I) or cobblestone (type 2) lissencephaly on the basis of a review of clinical records and neuroimaging studies. Only patients examined by an ophthalmologist were included in the study.
Results: Only 1 patient had a normal ocular examination. Ocular abnormalities included optic nerve hypoplasia and atrophy, retinal dysplasia, retinal nonattachment, macular hypoplasia, anterior segment malformation, and strabismus.
Conclusions: Ocular abnormalities in classic (type 1) lissencephaly are less severe. Central, steady, and maintained fixation may be present despite the presence of optic nerve hypoplasia, optic atrophy, macular hypoplasia, strabismus, or refractive errors. Retinal and anterior segment abnormalities were observed only in cobblestone (type 2) lissencephaly. These patients often have severe visual impairment because of retinal or cortical disease.