Fuch’s Corneal Dystrophy

From NEJM

Fuch's corneal dystrophy?  Have any idea what that is?  It affects about 5% of those over the age of 40, and as Rick and I both freely admit in this week's podcast, we had no idea either.  But in this week's New England Journal of Medicine, we both received an education regarding the most important cause of the need for a corneal transplant.

E2-2 protein and Fuch's corneal dystrophy examines the relationship between genes and development of the condition.  For those of you who think this may be a reach from a public health perspective, consider that Fuch's corneal dystrophy often accelerates in those who've undergone cataract surgery, and since about 10 million people have this surgery each year, the potential for harm is huge. Fuch's is the precipitating factor in the 42,000 corneal tranplants taking place in the US each year.

Two forms of Fuch's exist: early-onset familial and age-related.  The familial form develops earlier in life, while the age-related form is associated with the formation of 'guttae,' foldings of the membrane underneath corneal cells that eventually interfere with cell function and lead to opacity of the cornea.

This study used a technique called genome wide association to examine the DNA of study participants.  Researchers were able to identify variations in the DNA sequence that conferred up to a 3000-fold increased risk of developing Fuch's.

As Rick points out in the podcast, the Human Genome Project cost millions of dollars and countless human capital, yet practical, let alone clinical utility has been spotty at best.  This study clearly utilizes data obtained from that project to potentially help tens of thousands of people avoid the need for a corneal transplant and points the way toward develop of interventions. Roar!

Sounds like in the short term, a genetic test to predict this risk should soon become widely available, underscoring personal genetic analysis as increasingly important in health maintenance as well as disease management.

Other topics this week include the egg recall (check out your own eggs at www.eggsafety.org ), the consequences of helping clean up oil spills in the current issue of Annals of Internal Medicine, and drugs to combat herpes infections and the risk of birth defects in JAMA.  Until next week, y'all live well.

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4 Comments

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Comments

Jim October 7, 2014 at 12:04 am

If people live healthy, is this still something that can develop with age?

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Michael Kiel October 6, 2014 at 12:49 am

I know someone who had Fuch's Corneal Dystrophy. I'm glad I found this post to learn more about this rare condition.

Reply

Alex November 1, 2010 at 1:28 pm

The design of such intricate systems is truly a miracle to the people it helps.

Reply

Brett September 2, 2010 at 5:16 am

Took a while but I finally found your new blogsite after a few months! Another great podcast, thanks.

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