Long-term ocular follow-up in a case with hereditary mucoepithelial dysplasia

J Pediatr Ophthalmol Strabismus. 2010 Nov 23:47 Online:e1-4. doi: 10.3928/01913913-20101118-02.

Abstract

Hereditary mucoepithelial dysplasia is a rare desmosomal gap junction abnormality known to produce keratitis and cataracts in addition to multiple systemic problems. It generally carries a poor visual prognosis due to corneal scarring, amblyopia, and side effects of the treatment. The authors present a sporadic case of hereditary mucoepithelial dysplasia with an unusually good visual outcome and suggest that timely and appropriate intervention can improve the visual prognosis of this rare disorder.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alopecia / complications*
  • Alopecia / diagnosis
  • Cataract / diagnosis
  • Cataract / etiology*
  • Cataract Extraction
  • Child, Preschool
  • Corneal Neovascularization / etiology*
  • Eyeglasses
  • Female
  • Follow-Up Studies
  • Humans
  • Keratosis / complications*
  • Keratosis / diagnosis
  • Lens Implantation, Intraocular
  • Mucous Membrane
  • Myopia / etiology*
  • Myopia / therapy
  • Photophobia / etiology*
  • Skin Abnormalities / complications*
  • Skin Abnormalities / diagnosis
  • Visual Acuity

Supplementary concepts

  • Urban Schosser Spohn syndrome