Rothmund-Thomson syndrome and ocular surface findings: case reports and review of the literature

Arq Bras Oftalmol. 2016 May-Jun;79(3):186-8. doi: 10.5935/0004-2749.20160053.

Abstract

Rothmund-Thomson syndrome (RTS) is a rare dermatosis with about 300 cases reported to date. The authors describe two siblings with RTS and inflammatory conjunctival disease featuring fornix shortening and symblepharon as well as palpebral disease with sparse eyelashes. These cases demonstrate RTS ocular surface findings different to those usually described.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Conjunctiva / pathology
  • Conjunctivitis / pathology*
  • Eyelashes / pathology
  • Eyelid Diseases / pathology*
  • Female
  • Humans
  • Male
  • Rothmund-Thomson Syndrome / pathology*
  • Tissue Adhesions