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.