Microphthalmia in a Case of Edward Syndrome

Acar D. E. , Acar U., Ozdemir O., Ozen Z. T. , Cakar E. S.

SEMINARS IN OPHTHALMOLOGY, vol.29, no.2, pp.114-117, 2014 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 29 Issue: 2
  • Publication Date: 2014
  • Doi Number: 10.3109/08820538.2013.874486
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.114-117
  • Hacettepe University Affiliated: Yes


Aim: To present an infant of trisomy 18 (Edwards Syndrome) with unilateral microphthalmia. Methods: A female infant who was born at 41 weeks of gestation had been diagnosed with Edwards Syndrome (ES). On ophthalmic examination, microphthalmia, microcornea, optic disc coloboma, and persistent hyaloid artery were determined in the left eye. In addition, abnormalities in the ears, hands, feet, and cardiovascular system were present. Discussion: With this case report, we aimed to highlight the relationship between ocular disgenesis and chromosomal disorders and the importance of prenatal testing and genetic counseling for parents.