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

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.

• Authors: Diana Silveira Silva, Izabela Almeida, Camila F Netto, Bruno L B Esporcatte, Christiane Rolim-de-Moura
• Journal: Arquivos brasileiros de oftalmologia (Arq Bras Oftalmol) 2018 Nov./Dec. Vol. 81 Issue 6 Pg. 520-523 ISSN: 1678-2925 [Electronic] Brazil
• PMID: 30328942 (Publication Type: Case Reports, Letter)

Topics

• Child
• Erythema (diagnosis)
• Eye Abnormalities (diagnosis, surgery)
• Glaucoma (diagnosis, surgery)
• Humans
• Intraocular Pressure
• Male
• Telangiectasis (diagnosis)
• Trabeculectomy
• Trichothiodystrophy Syndromes (diagnosis)