%0 Review
%T Ocular features in Williams-Beuren syndrome: a review of the literature.
%A Nassisi M
%A Mainetti C
%A Aretti A
%A Sperti A
%A Nicotra V
%A Rinaldi B
%A Natacci F
%A Bedeschi MF
%A Viola F
%J Curr Opin Ophthalmol
%V 34
%N 6
%D 2023 Nov 1
%M 37589562
%F 4.299
%R 10.1097/ICU.0000000000000990
%X <B>OBJECTIVE: </B>The current review will discuss the pathophysiology, work-up and clinical relevance of the ocular phenotype in Williams-Beuren syndrome in detail.<BR><B>RESULTS: </B>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.<BR><B>CONCLUSIONS: </B>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.