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An Ophthalmologist’s Perspective on Diagnosing Inherited Retinal Diseases (IRDs) through Genetic Testing

An Ophthalmologist’s Perspective on Diagnosing Inherited Retinal Diseases (IRDs) through Genetic Testing

February 2021
By Dr. Mathew MacCumber

Mathew MacCumber, MD, PhD, opthalmologist and retina specialist, has seen many changes and innovations in his field over the past 25 years. One thing that stands out to him the most is the introduction of modern genetic testing for IRDs.

As an ophthalmologist and retina specialist practicing for 25 years, I have seen many changes and innovations, from new testing methods to surgeries that have the potential to improve vision and prevent further vision loss. One thing that stands out to me is the introduction of modern genetic testing for inherited retinal diseases (IRDs) – something I use regularly in the diagnosis of many of my patients.

IRDs are a group of eye disorders caused by an inherited gene mutation. While individually rare, collectively they are a significant cause of vision loss and blindness. Some of the most common IRDs are retinitis pigmentosa, Stargardt disease, juvenile retinoschisis, choroideremia, Leber congenital amaurosis, and cone-rod dystrophy.

Often with a broad spectrum of nonspecific presentations,

diagnosing these disorders in the past presented a significant

challenge. Providing a specific diagnosis based on the clinical

appearance alone meant there was potential for misdiagnosis.

Fortunately, the technology for diagnosing IRDs has improved dramatically, and research continues to advance. Genetic testing is opening more doors for us than ever before. If a doctor suspects a patient may have an IRD, they can use genetic panels like those available through ID YOUR IRD to identify mutations in approximately 300 different genes. From personal experience, these genetic testing panels are closing critical gaps in the information we need to help patients with IRDs understand and manage their disease and is the only way for a patient to receive a definitive diagnosis.

Not only is testing broader, but it is often less invasive than earlier generations of genetic testing and a blood draw is often unnecessary. Depending on the type of test, some now only require a saliva sample. Once the sample is taken, it is sent to a laboratory for analysis of specific changes in chromosomes, DNA or proteins. The results typically take a few weeks but may require months.

A positive genetic test can confirm a current diagnosis, correct a misdiagnosis or reveal additional diagnostic information. An accurate diagnosis provides patients with peace of mind, knowledge about the risk to family members and potentially information about their prognosis and disease management plan.

These answers can be empowering for patients. Research efforts around IRDs are constantly growing, giving patients the opportunity to explore clinical trials and new research opportunities. More knowledge about their condition may also help people with IRDs connect with other individuals living with the same genetic mutation.

For people who are interested in genetic testing, Eye Want 2 Know can be an incredible resource. In addition to information about genetic testing, the platform has tools such as the Find a Provider feature that helps patients find doctors and genetic counselors across the country who are equipped to facilitate genetic testing for IRDs.

Providing my patients with an exact diagnosis helps them manage their disease and take more control of their future. As someone who has already seen tremendous change and progress in the field of ophthalmology, I am incredibly excited about what’s still to come.

Dr. MacCumber has received fees from Spark Therapeutics.

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