Lattice corneal dystrophy type 1

Title

Other Names:

Corneal dystrophy, lattice type 1; CDL1; LCD1

Categories:

Congenital and Genetic Diseases; Eye diseases

Summary 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]

Last updated: 5/13/2016

Symptoms Symptoms

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	-
Lattice corneal dystrophy	-
Progressive visual loss	-
Recurrent corneal erosions	-

Last updated: 9/1/2016

Cause 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]

Last updated: 9/6/2016

Inheritance Inheritance

Lattice corneal dystrophy type 1 is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition.

In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation.

When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.^[2]

If you are interested in learning more about the inheritance of lattice corneal dystrophy type 1 and risks for family members, we would recommend consulting with a genetic specialist. Click here to learn more about how to find a genetics clinic.

Last updated: 5/16/2016

Diagnosis 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.

Last updated: 5/16/2016

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.

Last updated: 9/6/2016

Treatment 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]

Last updated: 5/16/2016

Do you have updated information on this condition? Let us know.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Screening Study for the Evaluation and Diagnosis of Potential Research Participants which may be of interest to you. To find this trial, click on the link above.

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.

Organizations Supporting this Disease

American Academy of Ophthalmology
P.O. Box 7424
San Francisco, CA 94120-7424
Telephone: 415-56-8500
Fax: 415-561-8533
Website: http://www.aao.org/
Cornea Research Foundation of America
9002 N. Meridian Street, Suite 212
Indianapolis, IN 46260
Telephone: 317-844-5610
Fax: 317-814-2806
Website: http://www.cornea.org
Foundation Fighting Blindness
7168 Columbia Gateway Drive, Suite 100
Columbia, MD 21046
Toll-free: 800-683-5555
Telephone: 410-423-0600 (local)
TTY: 800-683-5551
E-mail: info@fightblindness.org
Website: http://www.blindness.org
National Alliance for Eye and Vision Research (NAEVR)
1801 Rockville Pike, Suite 400
Rockville, MD 20852
Telephone: 240-221-2905
Fax: 240-221-0370
E-mail: jamesj@eyeresearch.org
Website: http://www.eyeresearch.org/
Prevent Blindness America
211 West Wacker Drive, Suite 1700
Chicago, IL 60606
Toll-free: 800-331-2020
Website: http://www.preventblindness.org/

Do you know of an organization? Send us your suggestions.

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

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.

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 was diagnosed with Fuch's dystrophy many years ago, but I think I may actually have lattice dystrophy. How can I find out for sure? See answer
I have lattice corneal dystrophy type 1 and have had light sensitivity and astigmatism for a number of years Over the past 18 months my vision has become much worse. Is any current research going on that relates to lattice corneal dystrophy? Also, have there been any recent articles published in medical journals about this disease? Since there are no other cases of corneal dystrophy in my family, yet this is a genetic disease, I'm additionally interested in finding out more about genetic testing. See answer

Have a question? Contact a GARD Information Specialist.

References References

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