Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome

Conclusion WBS is a complex multisystem genetic disorder with diverse ophthalmic findings that differ from those seen in isolated elastin mediated SVAS. These results suggest other genes within the WBS critical region, aside from ELN, may be involved in observed ocular phenotypes and perhaps broader ocular development. Furthermore, retinal arteriolar tortuosity may provide future insight into systemic vascular findings in WBS.

http://bjo.bmj.com/cgi/content/short/107/10/1554?rss=1

Source: British Journal of Ophthalmology - September 21, 2023 Category: Opthalmology Authors: Huryn, L. A., Flaherty, T., Nolen, R., Prasov, L., Zein, W. M., Cukras, C. A., Osgood, S., Raja, N., Levin, M. D., Vitale, S., Brooks, B. P., Hufnagel, R. B., Kozel, B. A. Tags: Open access Original articles - Clinical science Source Type: research