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Genetics will provide many opportunities for ophthalmologists
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 Richard L. Lindstrom |
One has to be excited about the potential application of our advancing knowledge in the field of genetics.
While genetics and environment are both important in all things human, from behavior to disease, if there is an 80-20 rule, it seems to favor our genes over our environment every time. As a powerful example, I continue to be amazed by the outcomes of the twin sibling studies ongoing at the University of Minnesota. Identical twins separated at birth and raised in different environments have an amazing track record of looking almost, well, identical when evaluated decades later, including the diseases and degenerations that plague them.
Genetics can be helpful in diagnosis, individual and family counseling, and therapy selection, and with gene replacement therapy, may represent the ultimate therapy itself. For example, the patient with a positive family history of keratoconus warrants a careful evaluation before LASIK is recommended; the patient with a corneal dystrophy needs to know the likelihood his or her children will suffer the same malady; and we are all aware of the genetic predisposition of some patients to develop a significant pressure elevation after topical steroid application. This knowledge influences our therapeutic plans and follow-up.
The next frontier is treating disease by replacing bad genes with good ones, or gene replacement therapy. This amazing concept is potentially the ultimate therapy for many otherwise untreatable, blinding diseases and may also enhance the effectiveness of pharmacologic or cell-based therapy in others. Fortunately for ophthalmologists and our patients, the eye is a nearly ideal organ for basic and clinical research in this field. While progress will be slow and earned the hard way, by investing significant human and financial resources, I predict future generations of our colleagues will routinely apply genetics in their daily practice.