Eye anomalies (small eye)

Microphthalmia occurs in the Oculo- Auriculo- Vertebral spectrum in the Goldenhar syndrome.

Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present.

Developmental disorder of the eye maybe associated with coloboma. An ophthalmologis examination should be performed. 

Other symptoms within the Oculo- Auriculo- Vertebral spectrum:

  • facial asymetry
  • hearing loss
  • coloboma
  • epibulbar dermoid

 

Last modified
29 December 2018
HPO
000568
Feature

Small eye, also called microphthalmia, may concern one or both eyes. A complete absence of the eye is called anophthalmia. A congenital reduction in eye...

Disease

Coloboma of the iris arises from failed or incomplete closure...