Anterior Segment Imaging and Treatment of a Case with Syndrome of Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism

PURPOSE: To report the ultrasound biomicroscopy (UBM) and surgical findings in a subject with a syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism (Traboulsi syndrome). METHODS: Case report, using a 40-MHz UBM wide-field anterior segment scan and anterior segment optical coherence tomography (OCT). RESULTS: A 16-year-old orphan girl presented with visual loss to the level of 6/60 (20/200) bilaterally. She had a central corneal opacification with retrocorneal fibrosis. The anterior chamber was flat with a very poorly dilating pupil. The lens was central in location. Perilimbal conjunctival blebs were bilateral with an intraocular pressure of 8 mm Hg. UBM and anterior segment OCT revealed chronic apposition of the iris to the cornea with angle closure, delineation of the bleb tract and rarefaction of the zonules. The girl had abnormal facial features (a beaked nose and long face) with normal chromosomal studies, negative fluorescent in situ hybridization study for velocardiofacial syndrome and an absence of signs suggesting Marfan syndrome. Under general anesthesia, attempts at deepening the anterior chamber with sodium hyaluronate 3% led to a spontaneous dislocation of the lens into the anterior chamber, facilitating its aspiration. Deepening of the angle was found after lens removal. Retrocorneal fibrosis persisted after surgery, but the bleb height decreased. Best corrected visual acuity did not improve from the preoperative level beyond 6/60 (20/200) because of central retrocorneal fibrosis. CONCLUSIONS: Early surgical removal of the lens is necessary in this syndrome to avoid irreversible corneal and trabecular meshwork damage in chronic apposition of the iris to the cornea. UBM can help in the delineation of the bleb tract and document resolution of angle closure after surgery.