Colobomatous macrophthalmia with microcornea.
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.
D000328:Adult; D002648:Child; D003103:Coloboma / Q000235:genetics*; D003315:Cornea / Q000002:abnormalities*; D003316:Corneal Diseases / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009216:Myopia / Q000235:genetics; D010375:Pedigree; D014602:Uvea / Q000002:abnormalities*; D014603:Uveal Diseases / Q000235:genetics