Fuchs endothelial corneal dystrophy
- Endoepithelial corneal dystrophy
Your QuestionI 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?
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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:
- Fuchs endothelial corneal dystrophy 2 (caused by a mutation in an unknown gene located in chromosome 13)
- Fuchs endothelial corneal dystrophy 3 (may be caused by TCF4 gene mutations)
- Fuchs endothelial corneal dystrophy 4 (caused by a mutation in the SLC4A11 gene)
- Fuchs endothelial corneal dystrophy 5 (caused by a mutation in an unknown gene located in chromosome 15)
- Fuchs endothelial corneal dystrophy 6 (caused by a mutation in the ZEB1 gene)
- Fuchs endothelial corneal dystrophy 7 (caused by a mutation in an unknown gene located in chromosome 9)
- Fuchs endothelial corneal dystrophy 8 (caused by heterozygous mutation in the AGBL1 gene).
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. Most cases of lattice dystrophy are caused by mutations in the TGFBI gene.
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. It is inherited in an autosomal dominant pattern.
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.
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.
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.
- Fuchs’ dystrophy. MedlinePlus. September 2, 2014; http://www.nlm.nih.gov/medlineplus/ency/article/007295.htm.
- Singh D. Fuchs Endothelial Dystrophy. Medscape Reference. August 19, 2014; http://emedicine.medscape.com/article/1193591-overview.
- Trattler, W. Dystrophy, Lattice. eMedicine. 2006; http://www.emedicine.com/OPH/topic93.htm. Accessed 6/13/2008.
- Sugar, J. Stromal Corneal Dystrophies and Ectasias. In: Yanoff et al.,. Yanoff: Ophthalmology, 2nd ed.. St. Louis, MO : Mosby, Inc; 2004;