Congenital malformations of the eye and orbit

Otolaryngol Clin North Am. 2007 Feb;40(1):113-40, vii. doi: 10.1016/j.otc.2006.11.013.


Congenital malformations may affect any part of the eye and the ocular adnexa. Developmental defects may occur in isolation or as part of a larger systemic malformation syndrome. Many malformations can severely impair vision, whereas others have only cosmetic significance, and still others cause no symptoms and may go undiscovered or may be noted incidentally on routine eye examination. Congenital anomalies have numerous causes, most commonly of developmental genetic origin. The genetic basis of congenital eye and orbit anomalies is just beginning to be delineated, and future research on the subject will undoubtedly broaden understanding of the developmental etiology, pathophysiology, and treatment of congenital ocular disorders.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple
  • Aniridia / genetics
  • Blepharophimosis
  • Blepharoptosis / congenital
  • Cataract / congenital*
  • Coloboma / diagnosis
  • Corneal Opacity / congenital
  • Eye / embryology
  • Eye Abnormalities
  • Eye Diseases / genetics
  • Eyelids / abnormalities
  • Humans
  • Hypertelorism / embryology
  • Optic Nerve / abnormalities
  • Orbit / abnormalities*
  • Retina / abnormalities
  • Syndrome