[Keratoconus in Mulvihill-Smith syndrome]

Klin Monbl Augenheilkd. 1994 Jul;205(1):44-6. doi: 10.1055/s-2008-1045490.
[Article in German]


Background: The Mulvihill-Smith syndrome consists of a large number of stigmata. A few of them are also seen in the LEOPARD syndrome. In both syndromes keratoconus has not yet been reported.

Patient: We present a twenty-year-old male patient suffering from keratoconus in connection with a Mulvihill-Smith syndrome. A keratoplasty à chaud was done after perforation of the corneal ulcer.

Conclusion: As a major complication corneal graft rejection is known after keratoplasty à chaud. However, in our patient immunological graft failure may be prevented by the T-cell defect.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / surgery
  • Adult
  • Ectodermal Dysplasia / diagnosis
  • Ectodermal Dysplasia / genetics*
  • Ectodermal Dysplasia / surgery
  • Humans
  • Immunologic Deficiency Syndromes / diagnosis
  • Immunologic Deficiency Syndromes / genetics
  • Immunologic Deficiency Syndromes / surgery
  • Keratoconus / diagnosis
  • Keratoconus / genetics*
  • Keratoconus / surgery
  • Keratoplasty, Penetrating
  • Male
  • Risk Factors
  • Syndrome