Corneal involvement in autosomal dominant coloboma/microphthalmos

Can J Ophthalmol. 1986 Dec;21(7):291-4.


Peripheral corneal opacification in the line of closure of the embryonic fissure associated with hyperopic astigmatism and anisometropic amblyopia was identified in two eyes of two members of a family with isolated autosomal dominant coloboma-microphthalmos. A review of the literature disclosed no previously reported cases. It would appear that the gene for isolated coloboma-microphthalmos can affect the growth and differentiation of mesenchymal cells of neural crest origin, as well as the neuroectodermal tissues of the embryonic fissure.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amblyopia / genetics
  • Chromosome Aberrations
  • Chromosome Disorders
  • Coloboma / genetics*
  • Cornea / abnormalities*
  • Female
  • Genes, Dominant
  • Humans
  • Iris / abnormalities
  • Male
  • Microphthalmos / genetics*
  • Middle Aged
  • Pedigree
  • Refractive Errors / genetics