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Genetic and Rare Diseases Information Center (GARD)

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Epithelial basement membrane corneal dystrophy


Other Names for this Disease
  • Cogan corneal dystrophy
  • Corneal dystrophy, anterior basement membrane
  • Map-dot-fingerprint dystrophy of cornea
  • Microcystic dystrophy of the 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: 6/30/2011

References

  1. Facts About the Cornea and Corneal Disease. National Eye Institute (NEI). June 2011; http://www.nei.nih.gov/health/cornealdisease/#j. Accessed 6/30/2011.
  2. Corneal dystrophy, epithelial basement membrane; EBMD. Online Mendelian Inheritance of Man (OMIM). 2009; http://www.ncbi.nlm.nih.gov/omim/121820. Accessed 6/30/2011.
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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) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an 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.