Dyskeratosis congenita with corneal limbal insufficiency

Pediatr Blood Cancer. 2009 Jul;53(1):95-7. doi: 10.1002/pbc.21960.

Abstract

We describe a newly diagnosed Turkish adolescent female with Dyskeratosis congenita along with the novel ocular finding of corneal limbal insufficiency. Corneal limbal insufficiency was suggested to be a premature aging sign resulting from a deficiency in corneal stem cell activity, a biological process caused by underlying telomeric defect in this disease.

Publication types

  • Case Reports

MeSH terms

  • Addison Disease / diagnosis
  • Adolescent
  • Corneal Diseases / complications*
  • Corneal Diseases / diagnosis*
  • Diagnosis, Differential
  • Dyskeratosis Congenita / complications*
  • Dyskeratosis Congenita / diagnosis*
  • Dyskeratosis Congenita / genetics
  • Female
  • Humans
  • Lentigo / diagnosis
  • Limbus Corneae / blood supply
  • Limbus Corneae / pathology*
  • RNA / genetics
  • Telomerase / genetics

Substances

  • telomerase RNA
  • RNA
  • Telomerase