{Reference Type}: Review
{Title}: Ocular features in Williams-Beuren syndrome: a review of the literature.
{Author}: Nassisi M;Mainetti C;Aretti A;Sperti A;Nicotra V;Rinaldi B;Natacci F;Bedeschi MF;Viola F;
{Journal}: Curr Opin Ophthalmol
{Volume}: 34
{Issue}: 6
{Year}: 2023 Nov 1
{Factor}: 4.299
{DOI}: 10.1097/ICU.0000000000000990
{Abstract}: <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.