Trichothiodystrophy: a case report of childhood glaucoma associated with non-acquired systemic disease / Tricotiodistrofia: relato de caso de glaucoma infantil associado a doença sistémica não adquirida
Arq. bras. oftalmol
;
81(6): 520-523, Nov.-Dec. 2018. graf
Article
in English
| LILACS
| ID: biblio-973853
ABSTRACT
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.
RESUMO
RESUMO A tricotiodistrofia pertence a um grupo de doenças genéticas raras caracterizadas por anomalias da reparação do DNA. Manifestações oculares podem ocorrer em 50% dos casos, incluindo catarata, erros refrativos, estrabismo, microcórnea, microftalmia, olho seco e alterações maculares pigmentares. Relatamos um caso de glaucoma infantil em um paciente com tricotiodistrofia submetido à trabeculectomia no olho esquerdo. No nosso conhecimento, este é o primeiro caso descrito de glaucoma infantil associado à tricotiodistrofia.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Eye Abnormalities
/
Glaucoma
/
Trichothiodystrophy Syndromes
Type of study:
Diagnostic study
/
Risk factors
Limits:
Child
/
Humans
/
Male
Language:
English
Journal:
Arq. bras. oftalmol
Journal subject:
Ophthalmology
Year:
2018
Type:
Article
Affiliation country:
Brazil
/
Portugal
Institution/Affiliation country:
Hospital Professor Doutor Fernando da Fonseca/PT
/
Universidade Federal de São Paulo/BR
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