Confirmation of the colobomatous macrophthalmia with microcornea syndrome: report of another family

Am J Med Genet. 1998 Mar 19;76(3):252-4.

Abstract

We report on the occurrence of microcornea, coloboma, and macrophthalmia in 4 generations of an Italian family. The patients had no additional physical anomalies, were of normal intelligence, and had a normal karyotype. This condition has been reported in only 1 family [Bateman and Maumenee, 1984: Ophthalmol Pediatr Genet 4:59-66]. The recurrence of this distinctive ocular pattern in our opinion confirms the existence of a new syndrome, with autosomal dominant inheritance.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Coloboma / genetics*
  • Coloboma / pathology
  • Cornea / abnormalities*
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Middle Aged
  • Ophthalmoscopy
  • Pedigree