Ophtalmologic diagnosis of lymphedema-distichiasis syndrome through the FOXC2 mutation.
Arch Soc Esp Oftalmol (Engl Ed)
; 99(4): 177-180, 2024 Apr.
Article
em En
| MEDLINE
| ID: mdl-38309663
ABSTRACT
Lymphedema distichiasis syndrome is one of the most frequent phenotypes of primary lymphedema, even so, its prevalence is still low. This syndrome courses with the appearance of abnormal eyelashes and distichiasis during childhood or puberty. This can cause a notable discomfort on our patients, especially at such an early age. The clinic evaluation of this signs must make us have in mind this group of syndromes, because in the case of lymphedema distichiasis syndrome, we can certainly diagnose it with the genetic analysis of the FOXC2 gen on patient's serum. With this we could prevent, diagnose and treat the ophthalmologic syndrome alongside the rest of systemic symptoms of this syndrome in a more effective way, giving our patients a higher quality of life.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Pestanas
/
Linfedema
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Aspecto:
Patient_preference
Limite:
Humans
Idioma:
En
Revista:
Arch Soc Esp Oftalmol (Engl Ed)
Ano de publicação:
2024
Tipo de documento:
Article