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.