Bilateral cataract and high serum ferritin: a new dominant genetic disorder?

J Med Genet. 1995 Oct;32(10):778-9. doi: 10.1136/jmg.32.10.778.

Abstract

This paper reports the cosegregation in a three generation pedigree of dominantly inherited cataract with an abnormally high level of serum ferritin. In this family, circulating L ferritin was raised in all subjects affected by cataract independently of iron overload. We suggest that a disorder of ferritin metabolism could be a new genetic disorder leading to lens opacity. Cataract-hyperferritaemia syndrome could also be a new contiguous gene syndrome involving the L ferritin gene and the gene coding for the lens membrane protein (MP19), which both map to the same region of chromosome 19q.

Publication types

  • Case Reports

MeSH terms

  • Cataract / blood
  • Cataract / genetics*
  • Child
  • Female
  • Ferritins / blood*
  • Ferritins / genetics
  • Genes, Dominant*
  • Humans
  • Male
  • Metabolism, Inborn Errors / genetics*
  • Pedigree

Substances

  • Ferritins