THE SPECTRUM OF OCULAR FEATURES IN THE WILLIAMS-BEUREN SYNDROME

One hundred and fifty-two patients with the Williams-Beuren syndrome w ere examined to assess the frequency and severity of ophthalmological features associated with the disorder. Eighty-two (54%) had strabismus , all but three, esotropia. One hundred and seventeen (77%) patients h ad blue irides, 10 (7%) green, and 25 (16%) brown. One hundred and twe lve (74%) showed a typical so-called stellate iris pattern of the ante rior stroma. Whitish anomalies were also detectable in brown irides. T wo 9-year-old patients and one 46-year-old patient had initial catarac t. Of all the patients with funduscopy, 22% had retinal vascular tortu osity. One patient had suspected Rieger syndrome. Two patients had pto sis, one with a Marcus-Gunn phenomenon. No ocular manifestation of hyp ercalcaemia was noted.