posted on 2018-10-17, 02:46authored byDiana Silveira Silva, Izabela Almeida, Camila F. Netto, Bruno L.B. Esporcatte, Christiane Rolim-de-Moura
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.