Pediatric Ophthalmoplegia and Ptosis in Epidermolysis Bullosa Simplex Associated With Muscular Dystrophy

J Pediatr Ophthalmol Strabismus. 2018 Aug 29:55:e26-e29. doi: 10.3928/01913913-20180806-03.

Abstract

Oculomotor dysfunction in epidermolysis bullosa simplex associated with muscular dystrophy has been reported rarely in the ophthalmic literature. In a series of 6 patients with epidermolysis bullosa simplex associated with muscular dystrophy, 3 demonstrated ptosis, ophthalmoplegia, or both. Ptosis and ophthalmoplegia may occur early in epidermolysis bullosa simplex associated with muscular dystrophy and aid in diagnosis. [J Pediatr Ophthalmol Strabismus. 2018;55:e26-e29.].

Publication types

  • Case Reports
  • Video-Audio Media

MeSH terms

  • Blepharoptosis / diagnosis
  • Blepharoptosis / etiology*
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Epidermolysis Bullosa Simplex / complications*
  • Epidermolysis Bullosa Simplex / diagnosis
  • Epidermolysis Bullosa Simplex / genetics
  • Female
  • Humans
  • Male
  • Muscular Dystrophies / complications*
  • Muscular Dystrophies / diagnosis
  • Mutation
  • Ophthalmoplegia / diagnosis
  • Ophthalmoplegia / etiology*
  • Pedigree
  • Plectin / genetics

Substances

  • PLEC protein, human
  • Plectin