Abstract：
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.
摘要：
Bardet-Biedl综合征是一种主要与视网膜营养不良有关的纤毛病，肾功能不全,后轴多指，肥胖，认知缺陷和性腺功能减退。与视网膜营养不良相关的症状通常直到生命的第一个十年才出现，所以诊断通常会延迟。眼部受累可能是这种综合征的最初表现，它甚至可能是唯一的一个，因此，在儿童弱视的鉴别诊断中应考虑到这一因素，该儿童尽管接受了正确的治疗，但仍未改善。小儿患者视力低下的病例是导致Bardet-Biedl综合征诊断的最初表现，这也是迄今为止患者出现的唯一症状，尽管是一种多系统疾病。
