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Disease Profile

Lattice corneal dystrophy type 1

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

All ages

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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

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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

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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.

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

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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.

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Not applicable

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Other names (AKA)

Corneal dystrophy, lattice type 1; CDL1; LCD1

Categories

Congenital and Genetic Diseases; Eye diseases

Summary

Lattice corneal dystrophy type 1 (LCD1) is an eye disorder that affects the cornea, the clear outer covering of the eye. In order to see properly, the cornea must remain clear. In LCD1, a protein, known as amyloid, builds up in a layer of the cornea called the stroma. Symptoms usually become apparent in childhood or adolescence and may include separation of layers of the cornea (corneal erosions), decreased vision, photosensitivity, and eye pain. LCD1 is caused by mutations in the TGFBI gene and is inherited in an autosomal dominant manner. Treatment focuses on relieving erosions with antibiotics and bandage contact lenses. If treatment is not successful and erosions become recurrent, phototherapeutic keratectomy to smooth the corneal surface and corneal transplant may be considered.[1][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
Lattice corneal dystrophy
0001149
Progressive visual loss
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive

[ more ]

0000529
Recurrent corneal erosions
Recurrent breakdown of clear protective layer of eye
0000495

Cause

LCD1 is a genetic disorder. It is caused by mutations in the TGFB1 gene. The TGFB1 gene provides instructions for making a protein, called TGFB1, which is found in many tissues of the body, including the cornea. TGFB1 is thought to play a role in the attachment of cells to one another (cell adhesion) and cell movement (migration).[3]

Diagnosis

Genetic testing is available for LCD1. Genetic Testing Registry lists the names of laboratories that are performing genetic testing for lattice corneal dystrophy. Most of the laboratories listed through Genetic Testing Registry do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. To view more information on genetic testing for lattice corneal dystrophy type 1, click here.

Diagnosis of LCD1 is based on the signs and symptoms.[1] Medscape Reference offers information on the diagnosis of LCD1 as well as the signs and symptoms. To read more, click here. You may need to register to view the article, but registration is free.

Treatment

Treatment for lattice corneal dystrophy type 1 (LCD1) depends on the disease severity and the associated symptoms. Patching and soft contact lenses may be recommended for episodes of corneal erosion. Corneal transplant (i.e., penetrating keratoplasty) or phototherapeutic keratectomy may be an option for individuals with recurrent erosions and/or vision loss.[4][1]

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

    Organizations Providing General Support

      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

      • Genetics Home Reference (GHR) contains information on Lattice corneal dystrophy type 1. This website is maintained by the National Library of Medicine.
      • 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. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Lattice corneal dystrophy type 1. Click on the link to view a sample search on this topic.

          References

          1. Natalie A Afshari, Stuart I Brown. Lattice Corneal Dystrophy. Medscape. Sep 22, 2014; https://emedicine.medscape.com/article/1193793-overview.
          2. lattice corneal dystrophy type I. Genetics Home Reference. April 2012; https://ghr.nlm.nih.gov/condition/lattice-corneal-dystrophy-type-i.
          3. TGFBI. Genetics Home Reference. April 2012; https://ghr.nlm.nih.gov/gene/TGFBI.
          4. Sugar, J. Stromal Corneal Dystrophies and Ectasias. In: Yanoff et al.,. Yanoff: Ophthalmology, 2nd ed.. St. Louis, MO : Mosby, Inc; 2004;

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