title: The Williams syndrome. Spectrum and significance of ocular features.
abstract: Forty-two subjects with classic features of Williams syndrome were evaluated to ascertain the prevalence and severity of the ophthalmologic features associated with the disorder. Twenty-six (62%) had a stellate pattern of the anterior iris stroma which was observed only in individuals with blue or hazel iris color. Twelve (29%) had strabismus, most commonly esotropia. Hypermetropic discs were noted in 18 of 33 patients (55%), a simplex vertical branching of the central retinal vessels at the disc in 23 (70%), and situs inversus vasorum in 5 (15%). No subject had accentuated vascular tortuosity, which has been reported previously as a hallmark of this syndrome. No ocular manifestation of infantile hypercalcemia was noted in any subject.
authors.affiliation: Institute for Molecular Genetics, Baylor College of Medicine, Houston.
authors.forename: F
authors.initials: F
authors.lastname: Greenberg
authors.forename: R A
authors.initials: RA
authors.lastname: Lewis
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005149:Facial Expression; D005260:Female; D006801:Humans; D006956:Hyperopia / Q000150:complications; D006972:Hypertelorism / Q000150:complications; D007223:Infant; D007499:Iris Diseases / Q000150:complications*; D008297:Male; D009887:Ophthalmoscopy; D013285:Strabismus / Q000150:complications*; D013577:Syndrome