F. Calleja Casado, G. Ortega Prades, A. Lanuza García, A. Duch Samper
{"title":"Diagnóstico oftalmológico del síndrome de linfedema-distiquiasis a través de la mutación FOXC2","authors":"F. Calleja Casado, G. Ortega Prades, A. Lanuza García, A. Duch Samper","doi":"10.1016/j.oftal.2024.01.001","DOIUrl":null,"url":null,"abstract":"<div><p>Lymphedema-distichiasis syndrome is one of the most frequent phenotypes of primary lymphedema, even so, its prevalence is still low.</p><p>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.</p><p>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.</p></div>","PeriodicalId":8348,"journal":{"name":"Archivos De La Sociedad Espanola De Oftalmologia","volume":"99 4","pages":"Pages 177-180"},"PeriodicalIF":0.0000,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Archivos De La Sociedad Espanola De Oftalmologia","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0365669124000054","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
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.
期刊介绍:
La revista Archivos de la Sociedad Española de Oftalmología, editada mensualmente por la propia Sociedad, tiene como objetivo publicar trabajos de investigación básica y clínica como artículos originales; casos clínicos, innovaciones técnicas y correlaciones clinicopatológicas en forma de comunicaciones cortas; editoriales; revisiones; cartas al editor; comentarios de libros; información de eventos; noticias personales y anuncios comerciales, así como trabajos de temas históricos y motivos inconográficos relacionados con la Oftalmología. El título abreviado es Arch Soc Esp Oftalmol, y debe ser utilizado en bibliografías, notas a pie de página y referencias bibliográficas.