Ophthalmology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico.
Department of Clinical Sciences and Community Health, University of Milan.
Curr Opin Ophthalmol. 2023 Nov 1;34(6):514-521. doi: 10.1097/ICU.0000000000000990. Epub 2023 Aug 17.
The current review will discuss the pathophysiology, work-up and clinical relevance of the ocular phenotype in Williams-Beuren syndrome in detail.
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.
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.
本综述将详细讨论威廉姆斯-比伦综合征的眼表型的病理生理学、检查方法和临床相关性。
少数病例报告、病例系列和回顾性研究报道了威廉姆斯-比伦综合征的眼科特征，主要集中在眼部受累的特定方面。最近，与该疾病相关的新的视网膜发现已经被描述。
在威廉姆斯-比伦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迂曲，可能有助于诊断，但没有显著的临床意义；另一些，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，一些特征，如宽大的中心小凹和较薄的视网膜，其意义仍不清楚，需要进一步的纵向和多模态研究。
