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。

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 ,&nbsp;I. Valls-Ferran ,&nbsp;B. Gutiérrez-Partida ,&nbsp;C. Martín-Villaescusa ,&nbsp;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 ,&nbsp;I. Valls-Ferran ,&nbsp;B. Gutiérrez-Partida ,&nbsp;C. Martín-Villaescusa ,&nbsp;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}
引用次数: 0

摘要

巴尔德-比德尔综合征是一种纤毛症,主要伴有视网膜营养不良、肾功能障碍、后轴多指畸形、肥胖、认知障碍和性腺功能低下。视网膜营养不良症的相关症状通常要到患者出生后的头十年才会出现,因此诊断通常会被延迟。眼部受累可能是该综合征的最初表现形式,甚至可能是唯一的表现形式,因此在对正确治疗后仍无改善的弱视患儿进行鉴别诊断时,应将眼部受累考虑在内。本报告中的一例儿童患者视力低下是导致巴尔德-比德尔综合征诊断的最初表现,也是该患者迄今为止出现的唯一症状,尽管这是一种多系统疾病。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
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.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
CiteScore
1.20
自引率
0.00%
发文量
109
审稿时长
78 days
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.
期刊最新文献
Síndrome de isquemia ocular tras tratamiento estético con ácido hialurónico Metotrexato intralesional y nuevos abordajes para la neoadyuvancia en el carcinoma escamoso cutaneo periocular Resultados a largo plazo del tratamiento de los pacientes con degeneración macular asociada a la edad exudativa durante la pandemia por COVID-19 Melanoma de cuerpo ciliar: imagen multimodal Dehiscencia de suturas en pacientes con enfermedad del tejido conectivo: síndromes de Marfan y Weill-Marchesani
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1