Preemptive genetic testing opens up the advantages of early treatment for patients at risk for genetic eye
disease. Onset may be delayed, symptoms may be mitigated, and outcomes may be redirected or changed.
Discovering genetic information early in a patient’s lifetime could make a meaningful difference in terms of
the quality of life for patients and their families.
Keratoconus, the most common primary corneal ectasia disorder, cannot be prevented at this present time.
However, early intervention may slow or delay the onset or the progression of symptoms. The techniques below
Many patients are unable to provide an accurate family history of corneal dystrophy, says Dr Julie
University of California, San Francisco.
The Avellino test has changed my practice significantly. Knowing about a technology that can save our
patients from the need for a corneal transplant that is likely going to come on much sooner than it would
have if we left the cornea untouched, it’s unconscionable to me not to use this in our practice.
Clifford L. Salinger, MD
A physician can administer a preventive therapy before
clinically detectable damage to tissues has occurred
A physician can increase surveillance for treatable manifestations of the disease
At-risk individuals can make informed lifestyle
decisions at a time in their lives when a disease is not yet clinically detectable
I’ve had the lovely opportunity to use the Avellino test on some of my patients in which I have suspected
lattice dystrophy and various phenotypes that are maybe atypical in the appearance, in family members as
well as extended family members. Using the test has given them an opportunity to be able to be advised on
future risk, and especially with regards to refractive surgery, to what their outcomes might be, and whether
they should avoid surgery.
Clara C. Chan, MD
Keratoconus prevalence may be considerably higher than previously reported, particularly in certain patient
groups. View this clinical paper for one perspective.
Torres-Netto EA, Al-Otabi WM, Hafezi NL
DNA-based testing methods such as AvaGen can uncover a patient’s predisposition to disease years or even
decades earlier than the disease would otherwise be detectable by the most sensitive, existing clinical
tools. DNA testing gives physicians and patients a unique opportunity to collaborate proactively toward
1. Ministry of Health Saudi Arabi website. Eye diseases. https://www.moh.gov.sa/en/HealthAwareness/EducationalContent/Diseases/Eyes/Pages/keratoconus.aspx.
Accessed August 20, 2019.
2. American Academy of Ophthalmology. Recommendations for Genetic Testing for Inherited Eye Diseases, 2014.
Accessed August 12, 2019.