Eye Center Research - Duke Eye Center

Fuchs Endothelial Corneal Dystrophy

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Eye Center Research

Eye Center Research | Site-Based Research | Clinical Trials
AERI Dedication | Fuchs Endothelial Corneal Dystrophy

About Fuchs Endothelial Corneal Dystrophy

The eye disease Fuchs endothelial corneal dystrophy (FECD) affects the innermost layer of the cornea, called the "corneal endothelium". This cell layer consists of thousands of little cells that pump water out of the cornea and into the eye. In FECD the corneal endothelial cells die and do not replace themselves, and "bumps" called guttae form on the back of the cornea. The more endothelial cells that die, the blurrier and hazier the vision becomes. Also, because the cornea is the "window of the eye" and assimilates the light that comes in, the more advanced FECD is, the harder it is for the eyes to handle light. That is why many people with Fuchs corneal dystrophy are blinded by car headlights at night, and have difficulty identifying people when the light is behind the person they are viewing. People with FECD often find that things look blurry, with a "ghost-like" blur.

Fuchs Endothelial Corneal Dystrophy Research

Duke Eye Center is conducting a research project to find the cause of FECD. The main goal of our research is to determine the genes that are responsible for putting patients at risk for FECD. Participation in research is completely voluntary and if patients with FECD decline to participate, their healthcare with their eye doctor and with the other doctors here at Duke will not be affected. Our research on FECD is funded by the National Eye Institute (NEI) and there is no additional cost to individuals who decide to participate. Since, this is a genetic study, all participants are asked to give us small blood samples so that we can analyze the DNA. In these analyses, the patient will not be identified by name and only by a unique number. We also ask for participants' permission to be contacted by telephone or email if we have questions related to the study. We ask participants to mention the study to their family members to see if they also want to participate as this will benefit the project immensely. If they are willing to participate, they can call us and let us know so that we can plan on how we can approach them to be part of the FECD research project. Participants in the study are asked to sign a consent form.

This NEI funded study includes a collaboration with investigators at the Wilmer Eye Institute at Johns Hopkins University. The genetic analysis in this study is being carried out in the Duke Center for Human Genetics, where a vast amount of genetic research has led to the identification of disease producing genes and their location on specific chromosomes for many disorders, including some that affect vision. The Duke Genetic Study on FECD was the first to undergo a genome wide scan to identify genes that predispose to FECD (Afshari NA, Li Y-J, Pericak-Vance MA, Gregory S, Klintworth GK. Genome-wide linkage scan in Fuchs endothelial corneal dystrophy. Invest Ophthalmol Vi Sci; 50:1093-7).

Persons interested in learning more about Duke Genetic Study on FECD can contact Dr. Natalie Afshari at 919-684-3799 or Fuchs dystrophy clinical coordinator at 919-681-9459.