Weill-Marchesani Syndrome: A Case Report

Purpose: We present a case of Weill-Marchesani syndrome.Case summary: A 31-year-old woman with primary open-angle glaucoma presented with uncontrolled intraocular pressure despite maximal medical therapy and prior selective laser trabeculoplasty with measurements of 25 and 22 mmHg in the right and the left eyes, respectively. Anterior vitreous prolapse was observed in both eyes and following pupillary dilation, partial lens dislocation in the inferonasal direction with zonulysis was confirmed. Axial lengths measured 23.89 mm in the right eye and 23.72 mm in the left eye. Refractive error at age 6 was ˗8.25 Dsph ˗4.50 Dcyl × 150° in the right eye and ˗9.25 Dsph ˗5.50 Dcyl × 10° in the left eye, consistent with lenticular myopia. The patient had a history of strabismus surgery, congenital mitral stenosis, and aortic regurgitation. Physical examination revealed brachydactyly and short stature (146 cm). Phacoemulsification with intraocular lens scleral fixation and anterior vitrectomy of the right eye successfully controlled intraocular pressure. Genetic testing identified an ADAMTS10 mutation confirming the diagnosis of Weill-Marchesani syndrome.Conclusion: Unlike primary open-angle glaucoma, patients with Weill-Marchesani syndrome require management of ectopia lentis and associated systemic conditions including cardiac abnormalities. In young patients presenting with elevated intraocular pressure a thorough ocular and systemic evaluation is essential for timely diagnosis of an underlying genetic disorder.