Science! Why should the clinician care?

How does molecular/genetic ophthalmic research benefit the clinician? If this question had been asked 10 years ago the answer would have been quite different from that of today. At that time very few ocular genes were known. The main aim of laboratory research was to establish linkage for an inherited disorder to a specific chromosomal region for a family. This allowed the early identification of members of a family who were at risk of being affected. Even this type of work was limited to conditions such as gyrate atrophy, cataracts, and retinitis pigmentosa, because linkage work was still very much in its infancy.

In 1999 there are over 60 ocular genes identified.1A clinician can request not just linkage information but specific mutation screening for many inherited ocular diseases, ranging from corneal dystrophies to Norrie’s disease. Because of limited funding, much of this work is performed at the research level only and not widely available as a laboratory service. The clinician can, however, use these data to counsel patients far more accurately and request prenatal testing.

Over the next 10 years it would be reasonable to anticipate the completion of the …