title: Ocular findings in Turner syndrome. A prospective study.
abstract: We performed complete ophthalmological examinations of 30 consecutive patients with Turner syndrome. Twenty-three had 45XO and 7 had 45XO/46XX karyotypes (mosaicism). Non-familial strabismus was the most prominent ocular abnormality and was present in 33% of the patients. Other eye findings included ptosis (16%), hypertelorism (10%), epicanthus (10%), and antimongoloid slants (10%). Red-green color deficiency was found in 10% of the patients. One patient had congenital periodic alternating nystagmus.
mesh_terms: D000293:Adolescent; D000328:Adult; D001763:Blepharoptosis / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005128:Eye Diseases / Q000209:etiology* / Q000235:genetics; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000209:etiology; D007223:Infant; D007621:Karyotyping; D009030:Mosaicism; D011446:Prospective Studies; D013285:Strabismus / Q000209:etiology; D014424:Turner Syndrome / Q000150:complications* / Q000235:genetics