title: Simple iris coloboma in a Greek family.
abstract: We report the presence of simple iris coloboma in 4 out of 5 female members comprising four generations of a Greek family. A varied degree of simple iris coloboma (i.e. not associated with a choroidal coloboma) was present in one eye of the maternal grandmother, mother, daughter and one out of 2 granddaughters of this family. The iris colobomata were associated with congenital lens opacities in 2 out of 4 of the females, macular degenerative changes in 2 cases and ocular hypertension in one case. The pathogenesis, heredity and associations of simple iris colobomata is discussed.
authors.affiliation: University Department of Ophthalmology, AHEPA Hospital, Thessaloniki, Greece.
authors.forename: A G
authors.initials: AG
authors.lastname: Konstas
authors.forename: T
authors.initials: T
authors.lastname: Bufidis
authors.forename: A
authors.initials: A
authors.lastname: Kardasopoulos
mesh_terms: D000293:Adolescent; D002386:Cataract / Q000151:congenital; D003103:Coloboma / Q000235:genetics* / Q000473:pathology; D005260:Female; D006115:Greece; D006801:Humans; D007498:Iris / Q000002:abnormalities* / Q000473:pathology; D008875:Middle Aged; D010375:Pedigree