title: The spectrum of ocular features in the Williams-Beuren syndrome.
abstract: One hundred and fifty-two patients with the Williams-Beuren syndrome were 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 had blue irides, 10 (7%) green, and 25 (16%) brown. One hundred and twelve (74%) showed a typical so-called stellate iris pattern of the anterior stroma. Whitish anomalies were also detectable in brown irides. Two 9-year-old patients and one 46-year-old patient had initial cataract. Of all the patients with funduscopy, 22% had retinal vascular tortuosity. One patient had suspected Rieger syndrome. Two patients had ptosis, one with a Marcus-Gunn phenomenon. No ocular manifestation of hypercalcaemia was noted.
authors.affiliation: Department of Ophthalmology, University of Kiel, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Winter
authors.forename: R
authors.initials: R
authors.lastname: Pankau
authors.forename: M
authors.initials: M
authors.lastname: Amm
authors.forename: A
authors.initials: A
authors.lastname: Gosch
authors.forename: A
authors.initials: A
authors.lastname: Wessel
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005124:Eye Abnormalities / Q000503:physiopathology*; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D018980:Williams Syndrome / Q000503:physiopathology*