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Diseases

Genetic and Rare Diseases Information Center (GARD)

Coloboma of optic nerve


Other Names for this Disease
  • Optic nerve head pits, bilateral congenital
  • Congenital coloboma of the optic nerve
  • Optic nerve coloboma
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Overview

Coloboma of the optic nerve is a congenital eye abnormality in which the optic nerve (which carries images of what the eye sees to the brain) is incompletely formed. The condition may occur in one or both eyes. The degree of visual impairment varies widely depending on the severity and structures involved. Serous detachments of the retina commonly occur in affected people, with a high risk for extensive retinal detachment. The coloboma may be associated with other features, such as a small eye (microphthalmia) with or without a cyst; small cornea (microcornea); or coloboma of other eye structures. Although the condition is present from birth, diagnosis may be delayed since the coloboma is inside the eye and not visible by simple inspection. Coloboma of the optic nerve may occur sporadically, may be due to a genetic mutation and be inherited, or may occur as a feature of an underlying syndrome or other genetic condition. There is no treatment to correct an optic nerve coloboma, but low vision aids may be helpful for some people.[1][2][3]
Last updated: 10/28/2015

References

  1. Coloboma of the Optic Nerve. University of Arizona. 2015; http://disorders.eyes.arizona.edu/disorders/coloboma-optic-nerve.
  2. Karl C Golnik. Congenital anomalies and acquired abnormalities of the optic nerve. UpToDate. Waltham, MA: UpToDate; September, 2015;
  3. G N Dutton. Congenital disorders of the optic nerve: excavations and hypoplasia. Eye. 2004; 18:1038-1048.
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Basic Information

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Coloboma of optic nerve. Click on the link to view a sample search on this topic.

Diagrams/Images

  • The Digital Reference of Ophthalmology provides an image and outlined description of optic nerve coloboma. Click on Digital Reference of Ophthalmology to view the information page.
Other Names for this Disease
  • Optic nerve head pits, bilateral congenital
  • Congenital coloboma of the optic nerve
  • Optic nerve coloboma
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.