Literature DB >> 30328942

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

Diana Silveira Silva1, Izabela Almeida2, Camila F Netto2, Bruno L B Esporcatte2, Christiane Rolim-de-Moura2.   

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.

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Year:  2018        PMID: 30328942     DOI: 10.5935/0004-2749.20180101

Source DB:  PubMed          Journal:  Arq Bras Oftalmol        ISSN: 0004-2749            Impact factor:   0.872


  1 in total

1.  PIBIDS syndrome in two Brazilian siblings.

Authors:  Kerstin Taniguchi Abagge; Felipe Haupenthal; Gabriella Yamashita Felber; Salmo Raskin
Journal:  BMJ Case Rep       Date:  2018-12-22
  1 in total

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