| Literature DB >> 30328942 |
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.Entities:
Mesh:
Year: 2018 PMID: 30328942 DOI: 10.5935/0004-2749.20180101
Source DB: PubMed Journal: Arq Bras Oftalmol ISSN: 0004-2749 Impact factor: 0.872