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Question:
I have Fuchs' dystrophy and am concerned that my daughter may inherit it, since it is autosomal dominant. Can I get genetic testing to see if I carry only one, or both "bad" genes. The best I can hope for her is a 50/50 chance.    

Answer:
Your question does not explain how you know that you have Fuchs' dystrophy. The diagnosis is usually a clinical one. Assuming that you have Fuchs' corneal dystrophy (which you may not have), you wonder if your daughter will get the condition. The genetics are incompletely understood and there are factors that may influence the expression of the genes. That means that even if your daughter has specific genes that are believed to be the cause of the dystrophy, she may not ever show clinical signs. Furthermore, the testing is expensive. I doubt that any health plan would pay for such testing. Since we don't completely understand the genetics, any result you obtain might be discovered to be wrong in 5 to 10 years. Most investigational testing protocols would contain warnings that any genetic determination cannot be used to make or confirm clinical diagnoses. Your question does not state how old your daughter is, but it may be decades before she shows any signs even if she has the dystrophy and there may be changes in diagnosis and treatment at that time. Most importantly, though, what would you do with the information? Nothing would change at this time, and there is no known preventive treatment. I would advise against the testing at this time.

Answered by: Ivan Schwab, MD Dr. Ivan Schwab

Categories: Eye Conditions

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Answered: Feb 08, 2013

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