Ocular findings in Turner syndrome. A prospective study

Ophthalmology. 1984 Aug;91(8):926-8. doi: 10.1016/s0161-6420(84)34212-9.

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

  • Adolescent
  • Adult
  • Blepharoptosis / etiology
  • Child
  • Child, Preschool
  • Chromosome Aberrations
  • Chromosome Disorders
  • Eye Diseases / etiology*
  • Eye Diseases / genetics
  • Female
  • Humans
  • Hypertelorism / etiology
  • Infant
  • Karyotyping
  • Mosaicism
  • Prospective Studies
  • Strabismus / etiology
  • Turner Syndrome / complications*
  • Turner Syndrome / genetics