What’s Your Diagnosis?

Abstract

A 21-month-old girl presented with frequent epiphora. Her parents denied the presence of discharge, hazy eyes, or photophobia. The patient was born at term weighing 6 lbs. Medical history was significant for treated congenital tracheoesophageal fistula and two small ventriculoseptal cardiac defects. Development had been slow but without regression, and the patient could crawl and sit unsupported. On examination, she was visually interested in toys and demonstrated good binocular fixation and following. Facial features included prominent epicanthic folds and up-slanting palpebral fissures (<a href="EditorPage.aspx?da=core&id=%7b49EE29E5-E306-4E44-88FF-A6C943C95F86%7d&ed=FIELD1527182392&vs&la=en&fld=%7b0B37FA8E-B2A6-4AE9-8E4F-53651D5CB226%7d&so=%2fsitecore%2fsystem%2fsettings%2fhtml+editor+profiles%2frich+text+healio&di=0&hdl=H1527182475&us=sitecore%5cEAnderer&mo&pe=0#x01913913-20110106-02-fig1">Fig. A</a>). The patient’s head circumference measured less than the third percentile. Both hands possessed a single transverse palmar crease and both ears were small. Anterior segment examination revealed multiple small white spots in the periphery of each iris (<a href="EditorPage.aspx?da=core&id=%7b49EE29E5-E306-4E44-88FF-A6C943C95F86%7d&ed=FIELD1527182392&vs&la=en&fld=%7b0B37FA8E-B2A6-4AE9-8E4F-53651D5CB226%7d&so=%2fsitecore%2fsystem%2fsettings%2fhtml+editor+profiles%2frich+text+healio&di=0&hdl=H1527182475&us=sitecore%5cEAnderer&mo&pe=0#x01913913-20110106-02-fig1">Fig. B</a>). The corneas appeared enlarged but were without opacification. Subsequent examination under anesthesia confirmed clear anterior segments and elevated intraocular pressures of 30 mm Hg in the right eye and 33 mm Hg in the left eye, with corneal thicknesses of 505 and 540 μm, respectively. Gonioscopy of each eye showed increased opacification circumferentially at the level of the ciliary body band, more temporally than nasally in both eyes. The optic discs were well vascularized with a central cup bilaterally.