Rare Dermatology News

Disease Profile

Epithelial basement membrane corneal dystrophy

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

-

ICD-10

H18.5

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

rnn-autosomaldominant.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

no.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

Corneal dystrophy, anterior basement membrane; Microcystic dystrophy of the cornea; Cogan corneal dystrophy;

Categories

Eye diseases

Summary

Epithelial basement membrane corneal dystrophy (EBMD), also called map-dot-fingerprint dystrophy, is an eye condition that affects the cornea. The epithelium is the cornea’s outermost layer, and the basement membrane is the layer that the epithelium attaches to.[1][2] EBMD occurs when the epithelial basement membrane develops abnormally, resulting in folds in the tissue. It is sometimes called map-dot-fingerprint dystrophy because when viewed with a special eye test called a slit-lamp exam, the folds form patches that resemble continents on a map, or sometimes, small fingerprints. There may also be clusters of dots around the patches.[1]

Most people with EBMD do not have symptoms and may not be aware they have EBMD.[2] Those who do have symptoms may have mild to severe blurry vision and pain, sensitivity to light, excessive tearing, and a feeling that something is in the eye.[1] The main cause of symptoms is recurring development of erosions in the cornea. Pain from an erosion may occur at any time but is most often experienced upon waking in the morning or during sleep. The pain can range from mild and short-lived to severe, lasting hours or longer.[3] Severe pain may develop if nerve endings in the tissue become exposed. In most cases, symptoms will come and go over several years before going away, without causing permanent vision loss. EBMD usually affects both eyes.[1]

EBMD usually is not inherited, occurring randomly in people with no family history of EBMD.[2][4] However, familial cases with autosomal dominant inheritance have been reported. In some people with EBMD, a mutation in the TGFBI gene has been identified as the cause. However in most cases, the cause remains unknown.[4][5]

Treatment options depend on the symptoms and severity in each person, and results differ from person to person.[2] People with no symptoms or mild symptoms may not need treatment.[6] Treatment options may include sodium chloride eye drops or ointment, wearing an eye patch, and using bandage contact lenses to protect the cornea and facilitate healing.[2] If pain or vision loss cannot be improved with these options, outpatient eye surgery may be recommended.[1][2] Unfortunately, even after treatment, recurrences are common.[7] Using a lubricating ointment at bedtime may help to prevent repeated corneal erosions.[2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Corneal dystrophy
0001131
Map-dot-fingerprint corneal dystrophy
0007690
Recurrent corneal erosions
Recurrent breakdown of clear protective layer of eye
0000495

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      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.

          References

          1. Facts About the Cornea and Corneal Disease. National Eye Institute (NEI). May 2016; https://www.nei.nih.gov/health/cornealdisease/#j.
          2. Verdier D. Map-dot-fingerprint Dystrophy. Medscape Reference. June 16, 2016; https://emedicine.medscape.com/article/1193945-overview.
          3. Laibson PR. Recurrent corneal erosions and epithelial basement membrane dystrophy. Eye Contact Lens. September, 2010; 36(5):315-317. https://www.ncbi.nlm.nih.gov/pubmed/20724847.
          4. Corneal dystrophy, epithelial basement membrane; EBMD. Online Mendelian Inheritance of Man (OMIM). June 19, 2009; https://omim.org/entry/121820. Accessed 7/8/2014.
          5. Evans CJ, Davidson AE, Carnt N. Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy. Invest Ophthalmol Vis Sci. October 1, 2016; 57(13):5407-5414. https://www.ncbi.nlm.nih.gov/pubmed/27737463.
          6. Corneal Dystrophies. National Organization for Rare Disorders (NORD). 2010; https://rarediseases.org/rare-diseases/corneal-dystrophies/.
          7. Suri K, Kosker M, Duman F, Rapuano CJ, Nagra PK, Hammersmith KM. Demographic patterns and treatment outcomes of patients with recurrent corneal erosions related to trauma and epithelial and bowman layer disorders. Am J Ophthalmol. December, 2013; 156(6):1082-1087. https://www.ncbi.nlm.nih.gov/pubmed/24075431.