Waardenburg syndrome-associated neurotrophic keratopathy in a child treated with neurotization surgery

J AAPOS. 2022 Dec;26(6):338-340. doi: 10.1016/j.jaapos.2022.08.262. Epub 2022 Sep 22.

Abstract

Waardenburg syndrome (WS) is a congenital developmental disorder characterized by congenital sensorineural hearing loss and pigmentary deficiencies in the iris, hair, and skin. Ocular associations of WS include choroidal and iris hypopigmentation and foveal hypoplasia. Possible associations include cataracts and retinal vein occlusion. We report the first case of neurotrophic cornea and relate our experience with neurotization surgery.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Corneal Dystrophies, Hereditary*
  • Humans
  • Hypopigmentation*
  • Iris / surgery
  • Iris Diseases*
  • Nerve Transfer*
  • Waardenburg Syndrome* / complications
  • Waardenburg Syndrome* / diagnosis