What do the experts say on genetic testing for IRDs?

March 27, 2024
Genetic testing and counseling are critical for patients with inherited retinal diseases (IRDs). A new AOA resource offers insights into the role doctors of optometry play in considering genetic testing for IRDs, including providing in-office testing or referring to offices that do.
Woman at powered microscope

No longer a purely academic or research activity, genetic testing and counseling have advanced to the point of evolving the standard of care for patients with inherited retinal diseases (IRDs) and optometry should be ready.

In a recently released report from the AOA, supported by Johnson & Johnson, eye care experts summed up the latest information from this rapidly evolving field with actionable takeaways, guidance and talking points that all doctors of optometry should consider for approaching genetic testing of patients with IRD. The digital report also includes links for additional assets, including low-vision resources and clinical trial information.

"Doctors of optometry should familiarize themselves with the importance of genetic testing for patients visiting their offices,” says report contributor Maria Richman, O.D., AOA Vision Rehabilitation Committee member. “It’s our goal that doctors can reference this guidance and quickly see what’s important about genetic testing and key discussion points to share with their patients.”

The AOA-convened group of low vision, vision rehabilitation and genetic testing experts reiterate the role doctors of optometry play in examining, testing and caring for patients with IRDs, as well as provide discussion on the following:

  • Benefits of genetic testing for IRDs
  • How to identify the right patients for testing
  • Current challenges with genetic testing
  • Importance of referrals for patients with IRDs

While IRDs in the general population are not all that common, Dr. Richman says, such patients will inevitably present at some point in a doctor’s career. Speaking from personal experience, Dr. Richman says she’s seen patients with IRDs present in both retail and medical settings, including her vision rehabilitation practice now. The most common IRDs include:

  • Leber congenital amaurosis
  • Albinism
  • Retinitis pigmentosa
  • Achromatopsia
  • Stargardt disease
  • Best disease
  • Cone-rod dystrophy
  • Choroideremia
  • X-linked retinoschisis
  • Congenital stationary blindness

When an optometrist suspects some form of an IRD, Dr. Richman recommends the first step should be discussing the findings with the patient. That conversation should include offering genetic testing, either in-office or by a referral to another facility that provides testing.

“Genetic testing can help the patient uncover the genetic cause of their vision loss, educate them on the prognosis and family planning risks, to see if they’re eligible for clinical trials and emerging treatments, and also have the opportunity to connect with support communities and consider low-vision services,” she says.

To date, there are over 30 clinical trials, and over 270 genes discovered that are related to IRDs.

Access the AOA Inherited Retinal Diseases report

Read more about what doctors of optometry should know about IRDs, genetic testing and counseling with this new, expert-led AOA resource, supported by Johnson & Johnson.

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