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Trichothiodystrophy: a case report of childhood glaucoma associated with non-acquired systemic disease.
Silva, Diana Silveira; Almeida, Izabela; Netto, Camila F; Esporcatte, Bruno L B; Rolim-de-Moura, Christiane.
Afiliación
  • Silva DS; Ophthalmology Department, Hospital Professor Doutor Fernando da Fonseca, Lisboa, Portugal.
  • Almeida I; Pediatric Glaucoma Section, Ophthalmology Department, Universidade Federal de São Paulo/Escola Paulista de Medicina, São Paulo, SP, Brazil.
  • Netto CF; Pediatric Glaucoma Section, Ophthalmology Department, Universidade Federal de São Paulo/Escola Paulista de Medicina, São Paulo, SP, Brazil.
  • Esporcatte BLB; Pediatric Glaucoma Section, Ophthalmology Department, Universidade Federal de São Paulo/Escola Paulista de Medicina, São Paulo, SP, Brazil.
  • Rolim-de-Moura C; Pediatric Glaucoma Section, Ophthalmology Department, Universidade Federal de São Paulo/Escola Paulista de Medicina, São Paulo, SP, Brazil.
Arq Bras Oftalmol ; 81(6): 520-523, 2018.
Article en En | MEDLINE | ID: mdl-30328942
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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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías del Ojo / Glaucoma / Síndromes de Tricotiodistrofia Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Child / Humans / Male Idioma: En Revista: Arq Bras Oftalmol Año: 2018 Tipo del documento: Article País de afiliación: Portugal
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías del Ojo / Glaucoma / Síndromes de Tricotiodistrofia Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Child / Humans / Male Idioma: En Revista: Arq Bras Oftalmol Año: 2018 Tipo del documento: Article País de afiliación: Portugal