Colobomatous macrophthalmia with microcornea

J. Bronwyn Bateman, Irene H. Maumenee

Research output: Contribution to journalArticlepeer-review

20 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)59-66
Number of pages8
JournalOphthalmic genetics
Volume4
Issue number2
DOIs
StatePublished - Jan 1 1984

Keywords

  • Colobomatous macrophthalmia
  • Colobomatous microphthalmia
  • Macrophthalmia
  • Microphthalmia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

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