1984•Ophthalmic Paediatrics and GeneticsRequires access
Colobomatous macrophthalmia with microcornea
J. Bronwyn Bateman, Irene H. Maumenee
Open publisher page 30 citations
Abstract
The ocular malformation of microcornea, uveal coloboma, high myopia, posterior staphyloma, and macrophthalmia was studied in a family. Clinical characteristics and ocular parameters, including refractive error and axial length, are summarized. The pedigree is consistent with autosomal dominant inheritance of the disorder; expressivity is variable. This unique malformation is differentiated from other well-recognized syndromes of colobomatous microphthalmia.