Epithelial basement membrane corneal dystrophy

Title

Other Names:

Corneal dystrophy, anterior basement membrane; Microcystic dystrophy of the cornea; Cogan corneal dystrophy; Corneal dystrophy, anterior basement membrane; Microcystic dystrophy of the cornea; Cogan corneal dystrophy; Map-dot-fingerprint dystrophy of cornea See More

Categories:

Eye diseases

Summary Summary

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

Symptoms Symptoms

A chronic problem seen in this condition is the epithelial erosions. They can alter the cornea's normal curvature, causing periodic blurred vision. These erosions may also expose the nerve endings that line the tissue, resulting in moderate to severe pain lasting as long as several days. Generally, the pain will be worse upon awakening in the morning. Other symptoms include sensitivity to light, excessive tearing, and foreign body sensation in the eye. This condition usually affects adults between the ages of 40 and 70, although it can develop earlier in life.^[1]

It gets its name from the unusual appearance of the cornea during an eye exam. Most often, the affected epithelium will have a map-like appearance, i.e., large, slightly gray outlines that look like a continent on a map. There may also be clusters of opaque dots close to the map-like patches. Less frequently, the irregular basement membrane will form concentric lines in the central cornea that resemble small fingerprints.^[1]

Epithelial basement membrane corneal dystrophy is not a progressive condition. Typically, it will flare up occasionally for a few years and then go away on its own, with no lasting loss of vision. Most people never know that they have this condition, since they do not have any pain or vision loss.^[1]^[3]

Last updated: 7/8/2014

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Autosomal dominant inheritance	-
Corneal dystrophy	-
Map-dot-fingerprint corneal dystrophy	-
Recurrent corneal erosions	-

Last updated: 9/1/2016

Treatment Treatment

Because most people do not develop noticeable signs or symptoms, treatment usually is not necessary. However, if treatment is needed, doctors will try to control the pain associated with the epithelial erosions. They may patch the eye to immobilize it, or prescribe lubricating eye drops and ointments. With treatment, these erosions usually heal within three days, although periodic flashes of pain may occur for several weeks thereafter. Other treatments include anterior corneal punctures to allow better adherence of cells; corneal scraping to remove eroded areas of the cornea and allow regeneration of healthy epithelial tissue; and use of the excimer laser to remove surface irregularities.^[1]

An article from eMedicine Journal provides additional information on treatment for epithelial basement membrane corneal dystrophy at the following link. You may need to register to view the article, but registration is free.
http://emedicine.medscape.com/article/1193945-treatment#showall

Last updated: 6/30/2011

Alternative and Complementary Medicine

The medical textbook, published in 1998 entitled, Genetic Diseases of the Eye, edited by Elias Traboulsi has a chapter on corneal diseases including epithelial basement membrane dystrophy on page 220 - 223. Includes information about the clinical features, histopathology and pathogenesis, differential diagnosis, and treatment.

Organizations Organizations

Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.

Organizations Supporting this Disease

Corneal Dystrophy Foundation
6066 McAbee Rd.
San Jose, CA 95120
Telephone: 866-807-8965
E-mail: execdir@cornealdystrophyfoundation.org
Website: http://www.cornealdystrophyfoundation.org

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

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.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

I just learned this morning via an eye exam that I have epithelial basement membrane corneal dystrophy. I would like more information on this condition. See answer

References References

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.
Corneal dystrophy, epithelial basement membrane; EBMD. Online Mendelian Inheritance of Man (OMIM). June 19, 2009; http://omim.org/entry/121820. Accessed 7/8/2014.
Verdier D & Roy H. Dystrophy, Map-dot-fingerprint. Medscape Reference. May 21, 2014; http://emedicine.medscape.com/article/1193945-overview. Accessed 7/8/2014.