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
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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。
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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.

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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.
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