Friday, April 15, 2011

Dad's Diagnosis

I found out last week that my father, who is 67 years old, was diagnosed with Fuchs' Dystrophy. For those of you not familiar - and considering only 1% of the population is affected by this disease, I don't expect you to be - it is a corneal disorder. The textbook description is as follows:
Fuchs' dystrophy (fooks DIS-tre-fe) is a rare disorder that affects the cornea — the transparent front surface of your eye. Although the cause of Fuchs' dystrophy is unknown, it often occurs as an inherited disorder.
Normally, the cells that line the back surface (endothelium) of the cornea prevent excess fluid from accumulating in the cornea. This helps the cornea maintain its transparency. But with Fuchs' dystrophy, those endothelial cells slowly deteriorate and die off. As a result, fluid builds up in the cornea. This may cause swelling, cloudy vision, pain and loss of corneal transparency.
Fuchs' dystrophy causes a variety of vision problems and can eventually lead to blindness. Fuchs' dystrophy is considered one type of corneal dystrophy. (Source ~ MayoClinic.com)
 Fuchs' Dystrophy is tricky... You can go a very long time with little to no change in your eyesight.  Then your vision can take a sudden nosedive. This seemed to be the case with my father. He always had very good vision. He started wearing reading glasses only after he hit middle age.  He found himself needing glasses full time a couple years ago. About two months after his most recent eye exam, he found that his newest prescription already seemed to be no longer working. This prompted the trip to the ophthalmologist who discovered mild cataracts and the Fuchs' Dystrophy. 

There are treatments to slow the progression of the disease, and treatment to relieve pain should the pressure of the retained fluid build so much that the cornea ruptures. But there is no real cure for Fuchs' Dystrophy other than corneal transplant.  It is one of the leading reasons for corneal transplant in the United States. 

My father can be a stubborn man... When he was diagnosed, he was given drops for his eyes to relieve the pressure. Since he didn't feel any pressure (although it was the pressure on the cornea that caused his recent vision changes), and the drops were uncomfortable when applied, he just decided not to use them. I guess a combined effort of nagging from his wife, my sister and myself forced him to question the ophthalmologist on the risks of not using the drops compared to their benefits. The doctor explained how the drops helped to draw fluid out of the cornea and slow the progression of the disease. The ophthalmologist also recommended switching from drop to an ointment. My father tried that and apparently prefers the ointment to the drops. He's back to treating the issue.

Since this is a genetic disorder, there is a 50/50 chance that I will have inherited it.  The same odds exist for my sister. Affected people don't usually become symptomatic until their 50's and 60's, but Fuchs' Dystrophy is detectable in a person's 30's and 40's.  Since my 40th birthday is approaching in a month, I have scheduled an ophthalmology appointment for next week.   Once I know if I have the disease myself, I will know how to proceed with my four kids.  Let's all hope my sister and I get clean eye exams for my 40th birthday.