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Diseases

Genetic and Rare Diseases Information Center (GARD)

Lattice corneal dystrophy type 1


Other Names for this Disease
  • Corneal dystrophy, lattice type 1
  • CDL1
  • LCD1
  • Biber-Haab-Dimmer dystrophy
  • Classic lattice corneal dystrophy
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 endothelial corneal dystrophy?

Fuchs endothelial corneal dystrophy (FECD) 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] There are several forms of the disease according to the age of onset of the symptoms and the cause.

The early-onset form is very rare and is known as Fuchs endothelial corneal dystrophy 1 (or early-onset Fuchs endothelial corneal dystrophy) and it is caused by a change (mutation) in the COL8A2 gene. Late-onset Fuchs endothelial corneal dystrophies are common and include:
Early in the disease, patients typically do not have symptoms. In the late-onset forms, the symptoms start around 50 or 60 years and include discomfort and painful episodes of recurrent corneal wounds and hazy vision. Over time, discomfort may diminish but severe impairment of visual acuity, and even blindness and cataracts in elderly patients, may be observed. Once the vision has worsened, the recommended treatment is a penetrating graft which has excellent results in most cases.[2]
Last updated: 2/3/2016

How is Fuchs corneal endothelial dystrophy diagnosed?

Diagnosis of Fuchs corneal endothelial 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]

Pachymetry is a good way of gauging the increase in corneal edema. The thickness can be compared with the new readings on subsequent visits. Increasing thickness of the cornea means increasing corneal endothelial decompensation. Presence of Descemet folds, epithelial bedewing, and corneal thickness of greater than 0.62 mm indicates potential decompensation.[2]
Last updated: 2/3/2016

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.[3] Most cases of lattice dystrophy are caused by mutations in the TGFBI gene.[4][3]

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.[4] 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.[3] 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
  • Corneal dystrophy, lattice type 1
  • CDL1
  • LCD1
  • Biber-Haab-Dimmer dystrophy
  • Classic lattice corneal dystrophy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.