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Diseases

Genetic and Rare Diseases Information Center (GARD)

Epithelial basement membrane corneal dystrophy


Other Names for this Disease
  • Corneal dystrophy, anterior basement membrane
  • Microcystic dystrophy of the cornea
  • Cogan corneal dystrophy
  • Map-dot-fingerprint dystrophy of cornea
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Overview

Epithelial basement membrane corneal dystrophy is a condition where the epithelium of the cornea (the outermost region of the cornea) loses its normal clarity due to a buildup of cloudy material. It gets its name from the unusual appearance of the cornea during an eye exam. This dystrophy occurs when the epithelium's basement membrane develops abnormally, causing the epithelial cells to not properly adhere to it. This leads to recurrent epithelial erosions, which can cause blurred vision and severe pain.[1] This condition is usually not inherited. However, families with autosomal dominant inheritance and mutations in the TGFBI gene have been identified.[2]
Last updated: 7/8/2014

References

  1. Facts About the Cornea and Corneal Disease. National Eye Institute (NEI). May 2013; http://www.nei.nih.gov/health/cornealdisease/#j. Accessed 7/8/2014.
  2. Corneal dystrophy, epithelial basement membrane; EBMD. Online Mendelian Inheritance of Man (OMIM). June 19, 2009; http://omim.org/entry/121820. Accessed 7/8/2014.
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Basic Information

  • The National Eye Institute (NEI) was established by Congress in 1968 to protect and prolong the vision of the American people. Click on the link to view information on this topic. 
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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 Epithelial basement membrane corneal dystrophy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Corneal dystrophy, anterior basement membrane
  • Microcystic dystrophy of the cornea
  • Cogan corneal dystrophy
  • Map-dot-fingerprint dystrophy of cornea
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.