E. Arias-García , I. Valls-Ferran , B. Gutiérrez-Partida , C. Martín-Villaescusa , N. Blanco-Calvo
{"title":"眼部受累是巴尔德-比德尔综合征的首发和唯一表现:病例报告。","authors":"E. Arias-García , I. Valls-Ferran , B. Gutiérrez-Partida , C. Martín-Villaescusa , N. Blanco-Calvo","doi":"10.1016/j.oftal.2023.12.004","DOIUrl":null,"url":null,"abstract":"<div><p>Bardet–Biedl syndrome is a ciliopathy mainly associated with retinal dystrophy, renal dysfunction, post-axial polydactyly, obesity, cognitive deficit and hypogonadism. The symptoms associated with retinal dystrophy do not usually appear until the first decade of life, so the diagnosis is usually delayed. Ocular involvement may be the initial form of manifestation of this syndrome, it may even be the only one, so it should be taken into account in the differential diagnosis of amblyopia in a child who does not improve despite correct compliance with treatment. A case of low visual acuity in a pediatric patient is presented as an initial manifestation that leads to the diagnosis of Bardet–Biedl syndrome, and which is also the only symptom that the patient presents to date, despite being a multisystem disease.</p></div>","PeriodicalId":8348,"journal":{"name":"Archivos De La Sociedad Espanola De Oftalmologia","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Afectación ocular como primera y única manifestación del síndrome de Bardet-Biedl: presentación de un caso\",\"authors\":\"E. Arias-García , I. Valls-Ferran , B. Gutiérrez-Partida , C. Martín-Villaescusa , N. Blanco-Calvo\",\"doi\":\"10.1016/j.oftal.2023.12.004\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>Bardet–Biedl syndrome is a ciliopathy mainly associated with retinal dystrophy, renal dysfunction, post-axial polydactyly, obesity, cognitive deficit and hypogonadism. The symptoms associated with retinal dystrophy do not usually appear until the first decade of life, so the diagnosis is usually delayed. Ocular involvement may be the initial form of manifestation of this syndrome, it may even be the only one, so it should be taken into account in the differential diagnosis of amblyopia in a child who does not improve despite correct compliance with treatment. A case of low visual acuity in a pediatric patient is presented as an initial manifestation that leads to the diagnosis of Bardet–Biedl syndrome, and which is also the only symptom that the patient presents to date, despite being a multisystem disease.</p></div>\",\"PeriodicalId\":8348,\"journal\":{\"name\":\"Archivos De La Sociedad Espanola De Oftalmologia\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-05-01\",\"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/S0365669124000030\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Archivos De La Sociedad Espanola De Oftalmologia","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0365669124000030","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
Afectación ocular como primera y única manifestación del síndrome de Bardet-Biedl: presentación de un caso
Bardet–Biedl syndrome is a ciliopathy mainly associated with retinal dystrophy, renal dysfunction, post-axial polydactyly, obesity, cognitive deficit and hypogonadism. The symptoms associated with retinal dystrophy do not usually appear until the first decade of life, so the diagnosis is usually delayed. Ocular involvement may be the initial form of manifestation of this syndrome, it may even be the only one, so it should be taken into account in the differential diagnosis of amblyopia in a child who does not improve despite correct compliance with treatment. A case of low visual acuity in a pediatric patient is presented as an initial manifestation that leads to the diagnosis of Bardet–Biedl syndrome, and which is also the only symptom that the patient presents to date, despite being a multisystem disease.
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.