Bay Vision - Spring 2018

The prevalence of these dystrophies varies from country to country. For example, in Korea, 1 out of 870 individuals are affected; in Japan, 1 out of 1,000; and in China, 1 out of 418. People don’t necessarily know they have a problem and it can be easily missed during traditional slit-lamp examination of the eye – a small spot or opacity could be dismissed as a scratch, or in a clear eye it could be missed entirely. The genetic test allows you to be 100 percent certain of whether someone is a carrier of the mutation. Clinical trials have achieved 100 percent sensitivity and specificity so Scott says they know that their tests are highly accurate. They look for 5 specific mutations and if you are positive for any of those, the doctor knows that you should seek alternative solutions to LASIK. Another outcome of the test is that if someone knows they have the mutation, they are advised to stay away from the sun, as sun exposure accelerates the wound- healing response in the eye. They should wear very good UV light protection to minimize and slow down the advancement of the condition. Scott says they recently saw a man who works as a river guide every summer and has had so much refractive light from the water that he can no longer drive a car, whereas his mother, who carries the same mutation but lives indoors, has a very minor condition. Avellino Labs has been able to protect over 900 people from losing their vision , so that’s 900 people globally who were tested, found to be positive and were able to be saved from the risk of having eye surgery. As a company, Avellino Labs has performed more than 653,000 tests worldwide . As for the technology behind the test, Scott explains that they use a method called PCR: “ PCR is a way of amplifying the DNA sequence and looking at the specific mutations. It actually uses a fluorescence technique and there is a lot of computer technology involved in the analytics of the data .” What does the future have in store? Scott tells us excitedly: “ The area where bioinformatics becomes very important to us is in the next generation of technology that our company is developing. Today we look at 5 specific point mutations. In the future we want to look at hundreds or thousands of mutations, for all types of eye conditions, and so this is the platform where we go to next, which is using something that’s called next-generation screening. In that we are looking at the entire genome and through that we are mining the data to look for specific mutations for different known eye diseases. In that case, we can look at hundreds, if not thousands, if not millions of mutations to look for trending in relationship to what’s known for inherited eye diseases. This is where computer technology becomes extremely important to us. ” 13 Avellino Labs Bay Vision “Avellino Labs has been able to protect over 900 people from losing their vision, so that’s 900 people globally who were tested, found to be positive and were able to be saved from the risk of having eye surgery.”