Bilateral macular colobomas in Leber's congenital amaurosis.
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.
Murayama
K
K
Department of Ophthalmology, School of Medicine, Chiba University, Japan.
Adachi-Usami
E
E
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