Open AccessTrichothiodystrophy: a case report of childhood glaucoma associated with non-acquired systemic disease
Author(s) -
Diana Silva,
Izabela Almeida,
Camila Netto,
Bruno L. B. Esporcatte,
Christiane Rolim-de-Moura
Publication year - 2018
Publication title -
arquivos brasileiros de oftalmologia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.603
H-Index - 29
eISSN - 1678-2925
pISSN - 0004-2749
DOI - 10.5935/0004-2749.20180101
Subject(s) - microphthalmia , medicine , trabeculectomy , glaucoma , dermatology , eye disease , strabismus , ophthalmology , biology , genetics , gene
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.
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