Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review

Abstract

Background: To report the diagnostic features and management strategy of a rare case of Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction.

Case presentation: A patient presented with advanced glaucoma with an intraocular pressure of 49 mmHg in the left eye, and subsequently received trabeculectomy to control the intraocular pressure. Surprisingly, slit lamp examination through the dilated pupil revealed a dislocated microspherophakic lens almost touching the corneal endothelium. A microspherophakic lens was confirmed by anterior segment optical coherence tomography. Weill-Marchesani syndrome was then diagnosed by ocular examinations, and was accompanied by systemic abnormalities, including brachymorphia and brachydactyly. Corneal endothelial microscopy showed severe corneal endothelial dysfunction, and lens extraction and intraocular lens implantation were subsequently performed to prevent further endothelial damage. At the 1-year follow-up visit, the patient had well-controlled intraocular pressure, transparent cornea, and normal anterior chamber depth, while the intraocular lens remained correctly in place.

Conclusions: Weill-Marchesani syndrome could be diagnosed by microspherophakia, high myopia, secondary glaucoma, and systemic abnormalities such as brachymorphia and brachydactyly. Removal of the microspherophakia is recommended to control intraocular pressure and improve vision. Advanced glaucoma in Weill-Marchesani syndrome should be treated with combined glaucoma surgery and lens extraction.

Figure 1

Ocular and systemic abnormalities of a case of Weill-Marchesani syndrome. (A) The lens appeared small and spherical with a slight upward dislocation. (B) The suspensory ligaments are clearly seen under high magnification. (C) The lens was microspherophakic (arrows), with a diameter of approximately 9 mm and an anteroposterior diameter of approximately 8 mm when observed using anterior segment optical coherence tomography (OCT). (D, E) The patient presented with short fingers and toes. (F) The patient presented with a transparent cornea and normal depth of the anterior chamber after phacoemulsification and intraocular lens implantation.