Trichothiodystrophy: a case report of childhood glaucoma associated with non-acquired systemic disease

Arq Bras Oftalmol. 2018;81(6):520-523. doi: 10.5935/0004-2749.20180101. Epub 2018 Oct 11.

Abstract

Trichothiodystrophy belongs to a group of rare genetic diseases characterized by DNA repair anomalies. Ocular manifestations can occur in 50% of cases, including cataract, refractive errors, strabismus, microcornea, microphthalmia, dry eye, and pigmentary macular changes. We report a case of childhood glaucoma in a patient with trichothiodystrophy who underwent trabeculectomy in the left eye. To our knowledge, this is the first clinical report of childhood glaucoma associated with trichothiodystrophy.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Erythema / diagnosis
  • Eye Abnormalities / diagnosis*
  • Eye Abnormalities / surgery
  • Glaucoma / diagnosis*
  • Glaucoma / surgery
  • Humans
  • Intraocular Pressure
  • Male
  • Telangiectasis / diagnosis
  • Trabeculectomy
  • Trichothiodystrophy Syndromes / diagnosis*