It seems that a week does not go by where we do not hear a news report about a certain gene being discovered for some disease. This much publicized area of research called Genetic Research is also important in the study of eyes and eye diseases, and specifically, diseases of the retina. Many of the breakthroughs in eye research over the last several years have been in this area of genetics. You may have heard that a new gene or new gene locus has been identified as a cause of a retinal degeneration. 

One of the reasons that this type of breakthrough is so important is that it gives the doctors a precise diagnosis, also known as a definitive diagnosis. Another reason this is so important is that eye diseases that affect the macula and have a precise name may actually be more than one disease. That is, the disease may look exactly the same to the eye doctor and may look exactly the same in taking a photograph of the retina but there may be a different gene causing the same, similar appearing Macular Degeneration. As to the number of genes causing macular degeneration, there may be ten or more. That is one reason why it is so important to discover each individual gene as much as possible as it gives the researchers a definitive diagnosis for that particular type of macular degeneration. Otherwise, it would be difficult to do research on so many different types of Macular Degeneration if you did not know the exact type or cause. So the very first thing is the identification of a gene, thereby obtaining a definitive diagnosis and an exact sample of the disease.

Secondly, once the gene is identified, a study can be done to determine in what way does this gene mutation interfere with the normal functioning of the retina to cause Macular Degeneration. Many times, as these genes are discovered, patients are then asked to come to a research center so that more information can be gathered about the specific disease process and how it affects the eye for that condition. 
 

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