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Trichothiodystrophy: a case report of childhood glaucoma associated with non-acquired systemic disease
Diana Silveira Silva1, Izabela Almeida2, Camila F Netto2
1Ophthalmology Department, Hospital Professor Doutor Fernando da Fonseca, Lisboa, Portugal.
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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