Search | SciELO

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.

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.

Index code	Element
ti	article title
au	author
kw	article keywords
subject	subject (title words, abstract and keywords)
ab	abstract
ta	journal short title (e.g. Cad. Saúde Pública)
journal_title	journal full title (e.g. Cadernos de Saúde Pública)
la	publication language code (e.g. pt - Portuguese, es - Spanish)
type	document type
pid	publication identifier
publication_year	publication year of publication
sponsor	sponsor
aff_country	country code of the author's affiliation
aff_institution	author affiliation institution
volume	article volume
issue	article issue
elocation	elocation
doi	DOI number
issn	journal ISSN
in	SciELO colection code (e.g. scl - Brasil, col - Colômbia)
use_license	article usage license code

No documents were found for your search