Anterior Segment Imaging and Treatment of a Case with Syndrome of Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
A 16-year-old female orphan (fig. ) has been complaining of bilateral visual loss for several years. Both uncorrected and corrected (with −7.0 dpt) visual acuities were 6/60 (20/200) bilaterally. She had a central superficial corneal opacification as well as central retrocorneal nodular thickening bilaterally. She also had iridocorneal touch with a diffusely flat anterior chamber (fig. ). The pupil failed to dilate from diffuse posterior synechiae. The lens was in a central location bilaterally. Conjunctival blebs were evident superiorly and nasally (fig. ) in both eyes with an intraocular pressure of 8 mm Hg. The posterior pole could be visualized in the left eye with difficulty using a 90-dpt lens and revealing a cup-to-disc ratio of 0.1. Using ultrasonography, the axial length measured 19.41 mm in the right eye and 20.12 mm in the left eye. The cornea was visualized using anterior optical coherence tomography (OCT) (Visante OCT; Carl Zeiss Meditec Inc., Jena, Germany) with good delineation of the central retrocorneal fibrosis (fig. ). Near apposition of the cornea to the iris was clearly demonstrated with angle closure (fig. ). Few zonules were delineated. Besides the apposition of the iris to the cornea with angle closure, both rarefaction of the zonules and bleb tracts were more clearly imaged by ultrasound biomicroscopy (UBM) using a 40-MHz UBM probe (Eye cubed Ellex; Ellex Innovative Imaging Inc., Sacramento, Calif., USA). Under general anesthesia, attempts at deepening the anterior chamber with sodium hyaluronate 3% led to spontaneous dislocation of the lens into the anterior chamber (fig. ), facilitating its aspiration (fig. ). Deepening of the angle was somewhat more evident on UBM than anterior segment OCT after lens removal (fig. ). Retrocorneal scar tissue persisted after surgery (fig. ), but the bleb height decreased clinically and by UBM (comparing to the fellow eye) after surgery (fig. ). Best corrected visual acuity did not improve from the preoperative level beyond 6/60 (20/200) partly from the central retrocorneal scar (fig. ). The patient declined a second eye surgery to remove the subluxated lens after 4 years of follow-up.\nThe patient had an elongated face and beaked nose (fig. ). She had some features suggestive of velocardiofacial syndrome like a prominent broad nose []. Genetic consultation ruled out both homocystinuria (normal serum amino acid quantitation) and DiGeorge syndrome (no deletion in the region 22q11.2 by fluorescent in situ hybridization), and confirmed a normal karyotype.