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

Autor: Silva, Diana Silveira, Almeida, Izabela, Netto, Camila F., Esporcatte, Bruno L.B., Rolim-de-Moura, Christiane

Publikováno v: Arquivos Brasileiros de Oftalmologia, Volume: 81, Issue: 6, Pages: 520-523, Published: 11 OCT 2018
Arquivos Brasileiros de Oftalmologia, Issue: ahead, Published: 11 OCT 2018

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 pigme

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492018000600520&lng=en&tlng=en

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

Autor: 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.

Publikováno v: Arquivos brasileiros de oftalmologia [Arq Bras Oftalmol] 2018 Nov./Dec.; Vol. 81 (6), pp. 520-523. Date of Electronic Publication: 2018 Oct 11.