The ocular malformation of microcornea, weal 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.
- Colobomatous macrophthalmia
- Colobomatous microphthalmia
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health