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Genetic and Rare Diseases Information Center (GARD)

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Lattice corneal dystrophy type 1


Other Names for this Disease

  • CDL1
  • Corneal dystrophy, lattice type 1
  • LCD1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your 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?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Fuchs’ dystrophy?

Fuchs' dystrophy is an eye disease. It affects the thin layer of cells that line the back part of the cornea. This layer is called the endothelium. The disease occurs when these cells slowly start to die off. The cells help pump excess fluid out of the cornea. As more and more cells are lost, fluid begins to build up in the cornea, causing swelling and a cloudy cornea.[1]
Last updated: 5/29/2009

How is Fuchs’ dystrophy diagnosed?

Diagnosis of Fuchs’ dystrophy requires a slit-lamp examination to view the cornea changes that are characteristic for this condition. The earliest observable change suggestive of Fuchs' dystrophy is the presence of guttae. Guttae are bumps on the back surface of the cornea.

Additional tests that may be done include pachymetry to measure the thickness of the cornea, a specular microscope examination to look at the endothelium cells, and a visual acuity test.[1]

Last updated: 5/29/2009

What is lattice dystrophy?

Lattice dystrophy is a type of stromal dystrophy.  The stroma is the middle layer of the cornea. The cornea is the eye's outermost layer. Click here to view an image of the cornea.

Lattice dystrophies are characterized by the build up of protein fibers (i.e., amyloid) in the stroma.  Symptoms may include corneal erosions, decreased vision, photosensitivity, and eye pain.[2] Most cases of lattice dystrophy are caused by mutations in the TGFBI gene.[3][2]

Lattice dystrophy type 1 is the most common type of lattice dystrophy. It is characterized by fine rod-like glassy opacities (i.e., lattice lines) near the front of the stroma. The opacities often appear in the first or second decade of life and worsen over time. Recurrent corneal erosions are common, which may result in decreased vision, photosensitivity, and eye pain.[3] It is inherited in an autosomal dominant pattern.

Last updated: 5/29/2009

How is lattice dystrophy type 1 diagnosed?

Diagnosis of lattice dystrophy type 1 is based on the signs and symptoms seen in the patient.[2] You can learn more about the signs and symptoms of lattice dystrophy at the following information page available on the eMedicine.com Web site.
http://emedicine.medscape.com/article/1193793-overview

GeneTests.org lists a laboratory that is offering clinical genetic testing for this condition. In general, clinical genetic tests may be ordered to help diagnose a person or family, to confirm a diagnosis, and/or to aid in decisions regarding medical care or reproductive issues.  We recommend that you talk to your health care provider or a genetic professional to learn more about your testing options, including the costs and benefits of testing. 
Last updated: 5/29/2009

How can I be sure my diagnosis of Fuchs' dystrophy is correct?

We recommend that you speak with your healthcare provider or an appropriate eye specialist regarding your concern. Your primary health care provider should be able to help you locate a eye disease specialist in your area. 

In addition, the National Eye Institue provides tips for finding an eye specialist at the following link. The NEI was created to conduct research, distribute health information, and support other programs that protect and prolong the vision of Americans.
http://www.nei.nih.gov/health/findprofessional.asp

While not an exaustive list of specialty eye centers, you can find a list of the American Association of Eye and Ear Hospitals member facilities at the following link.
http://www.aaeeh.org/locations.html   
Last updated: 5/29/2009

References
Other Names for this Disease
  • CDL1
  • Corneal dystrophy, lattice type 1
  • LCD1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.