title: Cortical visual impairment in hypomelanosis of Ito.
abstract: Hypomelanosis of Ito is a multisystem disorder that is thought to be due to chromosomal mosaicism. The authors report a case of cortical visual impairment in an infant diagnosed as having hypomelanosis of Ito. Cortical dysplasia was evident on magnetic resonance imaging and its presence in key areas of the visual pathway may explain the patient's cortical visual impairment.
authors.affiliation: Department of Ophthalmology, University Hospital of Wales, Cardiff, UK.
authors.forename: Andrew
authors.initials: A
authors.lastname: Scott
authors.forename: Caroline
authors.initials: C
authors.lastname: Micallef
authors.forename: Sarah L
authors.initials: SL
authors.lastname: Hale
authors.forename: Patrick
authors.initials: P
authors.lastname: Watts
mesh_terms: D006801:Humans; D017496:Hypopigmentation / Q000150:complications* / Q000235:genetics; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D054220:Malformations of Cortical Development / Q000175:diagnosis / Q000209:etiology*; D009030:Mosaicism; D010857:Pigment Epithelium of Eye / Q000473:pathology; D012164:Retinal Diseases / Q000150:complications; D014786:Vision Disorders / Q000175:diagnosis / Q000209:etiology*; D014795:Visual Pathways / Q000473:pathology