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

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

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 childho...

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Veröffentlicht in:Arquivos brasileiros de oftalmologia 2018, Vol.81 (6), p.520-523
Hauptverfasser: Silva, Diana Silveira, Almeida, Izabela, Netto, Camila F, Esporcatte, Bruno L B, Rolim-de-Moura, Christiane
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container_issue 6
container_start_page 520
container_title Arquivos brasileiros de oftalmologia
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creator Silva, Diana Silveira
Almeida, Izabela
Netto, Camila F
Esporcatte, Bruno L B
Rolim-de-Moura, Christiane
description 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.
doi_str_mv 10.5935/0004-2749.20180101
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title Trichothiodystrophy: a case report of childhood glaucoma associated with non-acquired systemic disease
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