Variable expressivity of autosomal dominant microcornea with cataract

Arch Ophthalmol. 1988 Apr;106(4):505-10. doi: 10.1001/archopht.1988.01060130551034.


Autosomal dominant microcornea with a cataract, previously described in four families, was documented in a seven-generation family. Eighteen family members had microcornea and a cataract, and an additional six had sclerocornea or Peters' anomaly. Most individuals with microcornea had a corneal diameter of less than 11 mm in both meridians, with moderately steep corneal curvatures. The inherited cataract progressed to form a total cataract after visual maturity had been achieved. In the four affected children who had not undergone cataract extraction, the common abnormality was a posterior polar lens opacity. The variability of expressivity of the dominant gene would suggest that the embryological origins of microcornea and sclerocornea are similar.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Anterior Eye Segment / abnormalities
  • Cataract / complications
  • Cataract / genetics*
  • Cataract Extraction
  • Child
  • Cornea / abnormalities*
  • Cornea / pathology
  • Female
  • Genes, Dominant*
  • Humans
  • Male
  • Pedigree
  • Vision, Ocular