Fuchs endothelial corneal dystrophy

Common Name(s)

Fuchs endothelial corneal dystrophy, Fuchs' dystrophy

Fuchs’ dystrophy, also known as Fuchs endothelial corneal dystrophy (FECD), is a condition that affects the cornea, which is the clear cover over the front of the eye. The condition causes swelling of the cornea, leading to glare, blurry vision, and sensitivity to light. Fuchs’ dystrophy can also cause tiny painful blisters on the cornea. Most cases are mild and do not cause a major change to a person’s vision. However, in advanced cases, affected people may eventually lose their vision completely. In these cases, a corneal transplant is the only option to improve vision.

Fuchs’ dystrophy occurs when the cells that protect the cornea begin to die off and stop working properly. This situation leads to fluid buildup, swelling, and thickening of the cornea. Risk factors for Fuchs’ dystrophy include gender (being female), age (being over 50 years), and having a family history of the condition. Fuchs’ dystrophy can be inherited, but the genetics of the disease are unclear. Some cases of Fuchs’ dystrophy are caused by a change (mutation) in the COL8A2 gene, which provides instructions for the body to produce a protein that helps protect the cornea (collagen). Cases that are caused by mutations in the COL8A2 gene are inherited in an autosomal dominant pattern. This means a mutation in one of the two COL8A2 copies a person has is enough to cause the condition.

Fuchs’ dystrophy is typically diagnosed by an eye doctor (ophthalmologist) during a detailed eye exam. There is currently no cure for Fuch's Dystrophy, but there are medical treatments, such as medications and soft contact lenses, that can help reduce glare, and relieve pain. Surgical procedures can be used to treat advanced Fuch’s dystrophy. If you have been diagnosed with Fuchs’ dystrophy, talk with your doctor about all current treatment options. Support groups can provide additional information and connect you with other families affected by Fuchs’ dystrophy.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fuchs endothelial corneal dystrophy" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Fuchs endothelial corneal dystrophy" returned 53 free, full-text research articles on human participants. First 3 results:

Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy.
 

Author(s): V Vinod Mootha, Brock Hansen, Ziye Rong, Pradeep P Mammen, Zhengyang Zhou, Chao Xing, Xin Gong

Journal: Invest. Ophthalmol. Vis. Sci.. 2017 Sep;58(11):4579-4585.

 

The most common cause of Fuchs' endothelial corneal dystrophy (FECD) is an intronic CTG repeat expansion in TCF4. Expanded CUG repeat RNA colocalize with splicing factor, muscleblind-like 1 (MBNL1), in nuclear foci in endothelium as a molecular hallmark. Myotonic dystrophy type 1 ...

Last Updated: 8 Sep 2017

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Comprehensive characterization of DNA methylation changes in Fuchs endothelial corneal dystrophy.
 

Author(s): Emily Khuc, Russell Bainer, Marie Wolf, Selene M Clay, Daniel J Weisenberger, Jacquelyn Kemmer, Valerie M Weaver, David G Hwang, Matilda F Chan

Journal:

 

Transparency of the human cornea is necessary for vision. Fuchs Endothelial Corneal Dystrophy (FECD) is a bilateral, heritable degeneration of the corneal endothelium, and a leading indication for corneal transplantation in developed countries. While the early onset, and rarer, form ...

Last Updated: 6 Apr 2017

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Trinucleotide Repeat Expansion in the Transcription Factor 4 (TCF4) Gene Leads to Widespread mRNA Splicing Changes in Fuchs' Endothelial Corneal Dystrophy.
 

Author(s): Eric D Wieben, Ross A Aleff, Xiaojia Tang, Malinda L Butz, Krishna R Kalari, Edward W Highsmith, Jin Jen, George Vasmatzis, Sanjay V Patel, Leo J Maguire, Keith H Baratz, Michael P Fautsch

Journal: Invest. Ophthalmol. Vis. Sci.. 2017 Jan;58(1):343-352.

 

To identify RNA missplicing events in human corneal endothelial tissue isolated from Fuchs' endothelial corneal dystrophy (FECD).

Last Updated: 24 Jan 2017

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Fuchs endothelial corneal dystrophy" returned 3 free, full-text review articles on human participants. First 3 results:

Transcript profile of cellular senescence-related genes in Fuchs endothelial corneal dystrophy.
 

Author(s): Mario Matthaei, Angela Y Zhu, Laura Kallay, Charles G Eberhart, Claus Cursiefen, Albert S Jun

Journal: Exp. Eye Res.. 2014 Dec;129():13-7.

 

Fuchs endothelial corneal dystrophy (FECD) is a genetically heterogeneous disease. Hypothesizing that cellular senescence may be relevant in FECD pathogenesis, genetically undifferentiated late-onset FECD endothelial samples were analyzed to identify common changes of specific senescence-related ...

Last Updated: 8 Dec 2014

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Oxidative stress in the pathogenesis of keratoconus and Fuchs endothelial corneal dystrophy.
 

Author(s): Katarzyna A Wojcik, Anna Kaminska, Janusz Blasiak, Jerzy Szaflik, Jacek P Szaflik

Journal:

 

Due to its localization and function, the cornea is regularly exposed to sunlight and atmospheric oxygen, mainly dioxygen, which produce reactive oxygen species (ROS). Therefore, corneal cells are particularly susceptible to oxidative stress. The accumulation of ROS in the cornea ...

Last Updated: 25 Sep 2013

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Fuchs endothelial corneal dystrophy.
 

Author(s): Hussain Elhalis, Behrooz Azizi, Ula V Jurkunas

Journal: Ocul Surf. 2010 Oct;8(4):173-84.

 

Fuchs endothelial corneal dystrophy (FECD) is characterized by progressive loss of corneal endothelial cells, thickening of Descement's membrane and deposition of extracellular matrix in the form of guttae. When the number of endothelial cells becomes critically low, the cornea swells ...

Last Updated: 22 Oct 2010

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 19 May 2017

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The Molecular Pathogenesis of Late-onset Fuchs' Endothelial Corneal Dystrophy
 

Status: Recruiting

Condition Summary: Fuchs' Endothelial Dystrophy

 

Last Updated: 30 May 2016

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Glanatec(R) for Descemet Stripping in Fuch's Endothelial Dystrophy
 

Status: Not yet recruiting

Condition Summary: Fuchs' Endothelial Dystrophy

 

Last Updated: 10 Aug 2017

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