Keratoconus is a degenerative eye disease that causes the cornea (the front part of the eye) to thin and warp out of shape. Without treatment, the condition can result in vision loss. While the exact cause of keratoconus is unknown, many cases are clearly inherited. This means that if you have a family member with keratoconus, you may be more likely to develop the condition yourself.
If you’re considering having children, genetic testing can be a helpful way to find out if you have a genetic variant that could cause keratoconus. If you do have the specific genetic mutation, there’s a 50% chance that you could pass it on to your child.
If you or your child has keratoconus, custom-fit scleral lenses can dramatically improve visual acuity and comfort levels. To learn more or to find out whether you're a candidate, contact your eye doctor in Bristol today.
How is Genetic Testing Done?
Avellino Labs' AvaGen test is the first and only commercial genetic test to assess risk for keratoconus. AvaGen involves 4 simple and non-invasive cheek (buccal) swab samples, all of which may be taken at the doctor's office. The results of the test can help your eye doctor better understand a patient's risk for developing keratoconus and make recommendations for treatment and management.
What Do the Results Indicate?
If the test shows that you have the genetic variant for keratoconus, it does not mean that you will definitely develop the disease. In fact, most people with the variant never develop any symptoms.
However, it’s important to be aware of the potential risk so that you and your eye doctor can take proactive steps to protect your eye health with frequent eye exams to detect the first signs of keratoconus.
What Are the Risks of Genetic Testing?
There are no known medical risks related to undergoing genetic testing with the Avellino Labs' AvaGen test.
Counseling is available for those at risk or who receive positive test results. Genetic counseling after testing can help you better understand your test results and treatment options and to deal with any concerns you may have. Counselors can refer you to healthcare providers, advocacy organizations or support groups.
Speak to your eye doctor at in Bristol about genetic testing for keratoconus and to discuss your overall eye health. They can help you understand the risks and benefits of testing so you can make the best decision for yourself and your family.
Scleral Lenses & Keratoconus
If you've been diagnosed with keratoconus and struggle to wear standard contact lenses or glasses, consider scleral lenses.
Custom-fit scleral lenses help patients with corneal irregularities achieve dramatic improvements in visual acuity and comfort. Scleral lenses vault over the cornea and prevent discomfort by resting on the sclera so as not to place any pressure on the cornea.
To determine whether scleral lenses are right for you, contact today!
Our practice serves patients from Bristol, Connecticut and surrounding communities.
Frequently Asked Questions with Dr. Maria Della Porta
Q: Is there a difference between keratoconus and astigmatism?
A: There’s a big difference between keratoconus and astigmatism. Keratoconus is a serious condition in which the cornea thins and bulges, while astigmatism is an irregularly shaped cornea that results in blurred vision. That said, both conditions can make it difficult to wear standard contact lenses.
Q: Can people with keratoconus wear contact lenses?
A: Yes, they can. If you've been told that you have hard-to-fit eyes, there’s no need to despair. In the past, hard-to-fit contact lens patients had to rely on glasses or uncomfortable or ill-fitting contact lenses that didn’t provide optimal vision. Thanks to advances in technology, scleral lenses can provide patients with keratoconus and other corneal irregularities the clear and comfortable vision they seek.
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