Abstract：
OBJECTIVE: The current review will discuss the pathophysiology, work-up and clinical relevance of the ocular phenotype in Williams-Beuren syndrome in detail.
RESULTS: Few case reports, case series and retrospective studies reported the ophthalmic features in Williams-Beuren syndrome, focusing on specific aspects of the ocular involvement. Recently, novel retinal findings have been described in association with the disease.
CONCLUSIONS: Numerous ocular features have been described in Williams-Beuren syndrome. Some of them, such as the stellate pattern of the iris or the retinal arteriolar tortuosity may be helpful for the diagnosis but have no significant clinical implications; others, such as strabismus and refractive errors require early treatment to reduce the risk of irreversible visual impairment. Finally, some features, such as a broad foveal pit and thinner retina still have unknown significance and require further longitudinal and multimodal studies.
RESULTS: Few case reports, case series and retrospective studies reported the ophthalmic features in Williams-Beuren syndrome, focusing on specific aspects of the ocular involvement. Recently, novel retinal findings have been described in association with the disease.
CONCLUSIONS: Numerous ocular features have been described in Williams-Beuren syndrome. Some of them, such as the stellate pattern of the iris or the retinal arteriolar tortuosity may be helpful for the diagnosis but have no significant clinical implications; others, such as strabismus and refractive errors require early treatment to reduce the risk of irreversible visual impairment. Finally, some features, such as a broad foveal pit and thinner retina still have unknown significance and require further longitudinal and multimodal studies.
摘要：
目的：本综述将讨论病理生理学，Williams-Beuren综合征眼部表型的详细检查和临床相关性。
结果：病例报告很少，病例系列和回顾性研究报道了Williams-Beuren综合征的眼科特征，关注眼部受累的具体方面。最近,新的视网膜发现已被描述为与该疾病相关。
结论：在Williams-Beuren综合征中已经描述了许多眼部特征。其中一些,如虹膜的星状模式或视网膜小动脉弯曲可能有助于诊断，但没有显著的临床意义；其他，如斜视和屈光不正需要早期治疗，以降低不可逆视力损害的风险。最后,一些特点,如广泛的中央凹窝和较薄的视网膜仍有未知的意义，需要进一步的纵向和多模态研究。
结果：病例报告很少，病例系列和回顾性研究报道了Williams-Beuren综合征的眼科特征，关注眼部受累的具体方面。最近,新的视网膜发现已被描述为与该疾病相关。
结论：在Williams-Beuren综合征中已经描述了许多眼部特征。其中一些,如虹膜的星状模式或视网膜小动脉弯曲可能有助于诊断，但没有显著的临床意义；其他，如斜视和屈光不正需要早期治疗，以降低不可逆视力损害的风险。最后,一些特点,如广泛的中央凹窝和较薄的视网膜仍有未知的意义，需要进一步的纵向和多模态研究。
