Novel ADAMTSL4 gene mutations in Chinese patients with isolated ectopia lentis

Conclusions This study reported five IEL probands with eight novel mutations in the ADAMTSL4 gene. The clinical IEL phenotypes caused by these mutations were variable and complex. This study thus establishes the ADAMTSL4 gene mutation frequency and expands the gene’s mutation spectrum to help recognise ADAMTSL4-related IEL clinical manifestations.

http://bjo.bmj.com/cgi/content/short/107/6/774?rss=1

Source: British Journal of Ophthalmology - May 19, 2023 Category: Opthalmology Authors: Guo, D., Yang, F., Zhou, Y., Zhang, X., Cao, Q., Jin, G., Zheng, D. Tags: Original articles - Clinical science Source Type: research