The Specialists and Therapies that Treat IRDs

A look at the healthcare providers you may work with if you are living with an inherited retinal disease (IRD).

People with IRD will typically work with what is called a multidisciplinary team—a group of healthcare providers who have different specialties and focus on the different aspects of treatment.

Medically reviewed in April 2022

Inherited retinal diseases (IRDs) are a group of conditions that affect the health of a person’s eyes—and more specifically, the health of the retina, a layer of light-sensitive cells located at the back of the eye. Examples of IRDs include retinitis pigmentosa, choroideremia, and Leber congenital amaurosis. As the word “inherited” implies, these diseases are caused by a person’s genetics.

Different IRDs cause different patterns of symptoms, some are more common than others, and the average age of onset varies from one IRD to the next. These conditions are often progressive, meaning they get worse with time. While the severity of symptoms will vary from person to person, IRDs can cause severe vision loss and can lead to blindness.

While there are few effective treatments available for people who have IRDs, there are healthcare providers and therapies that can help people with IRDs.

Healthcare providers who treat IRDs
People with IRD will typically work with what is called a multidisciplinary team—a group of healthcare providers who have different specialties and focus on the different aspects of treatment. This team may include:

  • Ophthalmologist. This is a medical doctor who specializes in disorders that affect the eyes and vision. They have the licensing and training to practice medicine and perform surgery, and some specialize in specific conditions.
  • IRD specialist. Working with a provider who has experience and knowledge of IRDs is essential—especially because IRDs are relatively rare conditions and there is still a lack of awareness compared to more common disorders. Providers who specialize in IRD diagnosis and treatment may include a retina specialist, a neuro ophthalmologist, or a pediatric ophthalmologist.
  • Low-vision specialist. This may also be referred to as low vision rehabilitation. This aspect of care helps people who have experienced vision loss find ways to adapt to that vision loss and maximize how they use their remaining vision.
  • Genetic counselor. Genetic testing is key to identifying and diagnosing IRDs. A genetic counselor is a healthcare provider with specialized training in genetics and genetic testing.

Other healthcare providers will help people with IRDs and their families with other aspects of living with and managing the condition.

This may include a medical social worker, a professional who helps patients and families navigate the practical, emotional, and financial aspects of living with a health condition.

Depending on a person’s age, they may also work with education specialists, who can help students meet their academic goals while living with an IRD.

IRD therapies
While there are few treatments available for IRDs, medical researchers are actively investigating potential therapies. Some of the most promising investigational therapies are gene therapies.

Gene therapies work by correcting or compensating for the genetic mutation that is causing the IRD. In many cases, this involves delivering fully functioning genetic material using a vector—for example, a harmless virus that has been modified.

The U.S. Food & Drug Administration approved the first gene therapy for IRDs. This gene therapy can treat IRDs caused by specific mutations to the RPE65 gene. Dozens of other gene therapies are being studied in clinical trials.

Additional types of therapies are also in development These include advanced prosthetics that can be implanted in the eye to restore vision, as well as neuroprotective agents that prevent the death of cells in the eyes.

Article sources open article sources

Byron L. Lam, Bart P. Leroy, et al. Genetic testing and diagnosis of inherited retinal diseases. Orphanet Journal of Rare Diseases, 2021. Vol. 16.
MedlinePlus. Retina.
PreventBlindness.org. Inherited Retinal Diseases (IRDs).
American Academy of Ophthalmology. What is an Ophthalmologist?
Annie Stuart. Inherited Retinal Diseases. American Academy of Ophthalmology. May 2018.
American Optometric Association. Low Vision and Vision Rehabilitation.
Our Lady on the Lake University. What Do Medical Social Workers Do?
Yan Nuzbrokh, Sara D. Ragi, and Stephen H. Tsang. Gene therapy for inherited retinal diseases. Annals of Translational Medicine, 2021. Vol. 9, No. 15.
U.S. Food & Drug Administration. FDA approves novel gene therapy to treat patients with a rare form of inherited vision loss. December 18, 2017.
Mark E. Pennesi, Jacque L. Duncan, et al. Let’s Talk About Gene Therapy for Inherited Retinal Diseases. Retina Today. July/August 2021.

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