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Miscellaneous (34)

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Abstract #79206 Published in IGR 20-1

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

Silva DS; Almeida I; Netto CF; Esporcatte BLB; Rolim-de-Moura C
Arquivos Brasileiros de Oftalmologia 2018; 81: 520-523

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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.

Ophthalmology Department, Hospital Professor Doutor Fernando da Fonseca, Lisboa, Portugal.

Full article

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Classification:

9.1.2 Juvenile glaucoma (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)

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