AvaGen - The First Genetic Test for Keratoconus
Keratoconus is an eye disease that affects the front portion of your eye, called the cornea. The cornea is a very thin, clear tissue that covers the colored part of your eye. The cornea allows light to enter your eye, and any changes to this structure can affect your vision drastically. In keratoconus patients, the cornea becomes thinner and steeper over time. This results in distorted, blurry, fluctuating vision. Many patients also suffer from double vision, sensitivity to light, poor night vision, and issues with glare and haloes. There is no cure for keratoconus.
Early detection is key: If keratoconus is diagnosed at a young age, a procedure called corneal crosslinking can be performed to help slow down or stop the progression. If crosslinking is not performed, the keratoconus condition is very likely to progress. This results in very poor, dysfunctional vision. Advanced keratoconus run the risk of corneal scarring, corneal hydrops (a very painful condition in which layers of the eye split), or corneal transplants.
The good news is that keratoconus is now much easier to detect, thanks to better equipment and diagnostics such as AvaGen.
AvaGen is a genetic test that helps identify your risk of keratoconus. This information is very helpful to your doctor, and it can help them manage your specific case more accurately.
Side view of a keratoconus patient. Notice the bulging cornea.
Frequently Asked Questions About AvaGen
What is AvaGen? AvaGen is a genetic test that helps to identify your risk of keratoconus and other corneal dystrophies.
How is the test performed? The test is incredibly simple and pain free. After you schedule your appointment with our office, you will arrive and be asked to rinse your mouth with warm water. This helps to ensure any food particles are removed before administering the test. Next, a cotton swab (similar to a q-tip) will be used to collect a sample of cells inside your cheek. We will repeat this with 4 different swabs to ensure an ample amount of cells are collected. Then, you will fill out a one-page information sheet with personal information to submit to the lab. After, this sheet is sent along with your cheek swab sample to the laboratory. The laboratory will analyze the data and then send us the full report within 2-3 weeks.
Does the test hurt? NO! A simple cheek swab is all that is needed to collect the specimen. We can perform it on any children who cooperate, too.
What happens after the lab gives you the results? A full report will be sent to your doctor and then you will be called to schedule a virtual appointment with Dr. Woo or Dr. Wong. They will show you the full genetic report and explain each section.
How long will my appointment be? The entire process can be completed in our office within 15 minutes.
Is the test covered by insurance? No, there are no medical insurances that cover the test at this time.
Does this test tell me for sure if I have keratoconus? No, this test will tell you your genetic risk for keratoconus. Keratoconus is a disease that is still being heavily researched. There is not just one test that identifies keratoconus. A series of tests and clinical observations are usually used when your doctor diagnoses you with keratoconus.
A simple, painless cheek swab is all it takes for the AvaGen test
What other information does AvaGen tell me? AvaGen will also test for other corneal dystrophies such as:
- Granular Corneal Dystrophy Type 1
- Granular Corneal Dystrophy Type 2
- Lattice Corneal Dystrophy Type 1
- Reis-Bucklers Corneal Dystrophy
- Theill-Behnke Corneal Dystrophy
How long will it take to get my results? Two to three weeks.
How will this test help me or my family? By knowing your genetic risk of keratoconus, that can help your doctor determine a more personalized management program for your specific case. For instance, if you have a high amount of astigmatism in your glasses, and your doctor sends you for AvaGen, and your risk is very low, they may continue to see you once or twice a year. If you have high astigmatism in your glasses and your risk is very high, they may want to see you back more often or send you for additional testing.
Who are the best candidates for AvaGen?
- Patients at risk for keratoconus or deemed keratoconus suspect by their eye doctor
- Patients with a known diagnosis of keratoconus who want to know if their children or other family members are at risk
- Patients with high amounts of refractive error or astigmatism
- Patients with suspicious corneal topographies
- Young patients (less than 21) who cannot see 20/20 with traditional glasses or contacts
- Patients with unequal refractive errors
- Children (less than 21) with rapidly changing glasses prescriptions
- Patients wanting to undergo LASIK, PRK, or other refractive surgeries and want to ensure a low risk for post-corneal ectasia
- Patients with suspicious corneal findings such as corneal thinning, striae, or scarring seen by their eye doctor
If I score in the “very high risk,” does that mean I will end up getting keratoconus? No, if you are at higher risk, it does not mean that you will 100% end up with keratoconus. It may help your doctor optimize a treatment plan specifically based on your risk factors.
A genetic counselor is available to answer all of your questions, free of charge!
What if I have questions about the genetic test? AvaGen has a genetic counselor available to answer all your questions, free of charge. They are happy to answer questions that you have.
I’ve got the information, now what? After reviewing your results with Dr. Woo or Dr. Wong, your results will be sent to your primary care optometrist or ophthalmologist. They will then customize a treatment plan for your specific case. If you do not have an eye doctor, we can recommend one for you.
Can’t Dr. Woo or Dr. Wong just see me for my follow ups and exams? No, the Contact Lens Institute of Nevada is dedicated entirely to the needs of specialty contact lens patients. We can certainly help with specialized contact lenses for keratoconus, such as scleral lenses, hybrid lenses, and other keratoconus contact lenses, but we do not offer primary care services within our office. Your primary care optometrist or ophthalmologist is the best doctor to manage your case.
How do I book? Call our office or fill out the form below and we can contact you to schedule you for this quick and easy test!