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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Published inArquivos brasileiros de oftalmologia Vol. 81; no. 6; pp. 520 - 523
Main Authors Silva, Diana Silveira, Almeida, Izabela, Netto, Camila F, Esporcatte, Bruno L B, Rolim-de-Moura, Christiane
Format Journal Article
LanguageEnglish
Published Brazil Conselho Brasileiro de Oftalmologia 01.11.2018
Subjects
OPHTHALMOLOGY
Glaucoma
Humanos
Humans
Distúrbios no reparo do DNA
Trichothiodystrophy syndromes
Xeroderma pigmentosum
Case reports
Xeroderma pigmentoso
Manifestações oculares
Relatos de casos
Ocular manifestations
DNA repair-deficiency disorders
Síndromes de tricotiodistrofia
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Summary: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.
ISSN:0004-2749
1678-2925
1678-2925
DOI:10.5935/0004-2749.20180101