Early prevention

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.

Tactics to help slow progression

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 may help.

Preventive techniques for keratoconus1:
  • Regular eye tests for all family members above 10 years of age, especially for families with a history of keratoconus or certain risk factors
  • Avoid rubbing eyes
  • Follow physician instructions and immediately report issues or suspected disease progression
  • Avoid unprescribed medications, even if recommended by a keratoconus patient
  • Keep eyes clean
  • Protect against eye irritations
  • Protect eyes while swimming and other sports
  • Regular eye tests for all family members above 10 years of age, especially for families with a history of keratoconus or certain risk factors
  • Avoid rubbing eyes
  • Follow physician instructions and immediately report issues or suspected disease progression
  • Avoid unprescribed medications, even if recommended by a keratoconus patient
  • Keep eyes clean
  • Protect against eye irritations
  • Protect eyes while swimming and other sports

Identifying corneal dystrophies earlier

Many patients are unable to provide an accurate family history of corneal dystrophy, says Dr Julie Schallhorn, 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

New opportunities for earlier disease protection

The American Academy of Ophthalmology (AAO) believes pre-symptomatic testing offers 3 potential advantages2:

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

Prevalence of keratoconus

Keratoconus prevalence may be considerably higher than previously reported, particularly in certain patient groups. View this clinical paper for one perspective.

Prevalence of keratoconus in pediatric patients in Riyadh, Saudi Arabia

Torres-Netto EA, Al-Otabi WM, Hafezi NL

How genetic tests such as AvaGen may help

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 improved outcomes.


Learn about the potential of AvaGen


References

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.
https://www.aao.org/clinical-statement/recommendations-genetic-testing-of-inherited-eye-d. Accessed August 12, 2019.

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