title: Bilateral macular colobomas in Leber's congenital amaurosis.
abstract: Two siblings with Leber's congenital amaurosis had bilateral macular colobomas, nystagmus, extinguished ERGs, and degenerative salt and pepper like changes in the fundus. They had non-recordable or non-meaningful visually evoked cortical potentials in response to both flash and pattern stimuli. The ophthalmic conditions were thought to be inherited as an autosomal recessive trait.
authors.affiliation: Department of Ophthalmology, School of Medicine, Chiba University, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Murayama
authors.forename: E
authors.initials: E
authors.lastname: Adachi-Usami
mesh_terms: D000293:Adolescent; D000328:Adult; D001766:Blindness / Q000150:complications / Q000151:congenital* / Q000503:physiopathology; D002648:Child; D003103:Coloboma / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D004596:Electroretinography; D005074:Evoked Potentials, Visual; D006801:Humans; D008266:Macula Lutea / Q000002:abnormalities* / Q000473:pathology; D008297:Male; D014792:Visual Acuity