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Ocular findings in lissencephaly.
Naeem U Nabi1, Eedy Mezer, Susan I Blaser
1Department of Ophthalmology, The Hospital for Sick Children, University of Toronto, Canada.
Summary
Lissencephaly, a brain malformation, often causes severe vision problems. Cobblestone lissencephaly presents with more significant ocular issues than classic lissencephaly.
Area of Science:
- Neurology
- Ophthalmology
- Genetics
Background:
- Lissencephaly is a congenital brain malformation characterized by a smooth brain surface.
- It is classified into classic (type I) and cobblestone (type 2) forms.
- Ocular abnormalities are frequently associated with lissencephaly, impacting visual development.
Purpose of the Study:
- To investigate the spectrum of ocular and visual abnormalities in patients with lissencephaly.
- To compare the severity of ocular findings between classic (type I) and cobblestone (type 2) lissencephaly.
Main Methods:
- Retrospective study of 20 patients diagnosed with lissencephaly.
- Classification into type I or type II based on clinical records and neuroimaging.
- Inclusion criteria: patients examined by an ophthalmologist.
Main Results:
- Only one patient had a normal ocular examination.
- Common ocular abnormalities included optic nerve hypoplasia/atrophy, retinal dysplasia, retinal non-attachment, macular hypoplasia, anterior segment malformations, and strabismus.
- Cobblestone (type 2) lissencephaly showed more severe retinal and anterior segment abnormalities.
Conclusions:
- Ocular abnormalities are prevalent in lissencephaly, with varying severity.
- Classic (type I) lissencephaly generally presents with less severe ocular findings.
- Cobblestone (type 2) lissencephaly is associated with significant visual impairment due to severe retinal or cortical disease.