title: [Macular coloboma type Leber's congenital amaurosis].
abstract: Three brothers, with the macular coloboma type Leber's congenital amaurosis aged 10, 8, and 6 years respectively, are described in this report. Only the two elder brothers were symptomatic while the third patient had no complaint at the time of diagnosis. The patients had no associated systemic or ocular disorders, including nystagmus. They had mild myopic astigmatism. All three had a relatively well-circumscribed bilateral macular atrophy with a seemingly normal peripheral retina. The electroretinogram was non recordable but the visualy evoked potential responses were within normal limits. During three years of follow-up, the macular lesions did not progress and the visual acuity did not deteriorate further. Our experience with these three familial cases supports the general view that the macular coloboma variant does not necessarily have the typical signs and symptoms and perhaps also the dismal prognosis of classic Leber's congenital amaurosis, and as such should stand as a distinct subtype of the disease.
authors.affiliation: Clinique Ophtalmologique Universitaire, Faculté de Médecine, Université de Hacettepe, Ankara, Turquie.
authors.forename: H
authors.initials: H
authors.lastname: Kiratli
authors.forename: B
authors.initials: B
authors.lastname: Bozkurt
mesh_terms: D001766:Blindness / Q000145:classification / Q000151:congenital* / Q000235:genetics; D002648:Child; D006801:Humans; D008297:Male