What is the most common inherited retinal disease?
Inherited retinal diseases are rare genetic disorders that can cause blindness. There are over 260 genes known to cause IRDs, and over 20 known IRDs
Inherited retinal diseases or IRDs are rare genetic disorders that can cause significant vision loss or even blindness. There are over 260 genes known to cause IRDs and over 20 known IRDs. Some diseases are still being researched.
The most common inherited retinal disorders include:
In adults, glaucoma and age-related macular degeneration appear to be inherited in a large portion of cases. Researchers have made significant progress in identifying the genes that cause retinitis pigmentosa, a degenerative disease of the retina that causes night blindness and gradual vision loss.
IRDs can affect people of various ages, and different types progress at different rates. Many, however, are degenerative, meaning that they worsen over time.
What causes inherited retinal diseases?
Inherited retinal diseases are characterized by a change in one or more genes involved in retinal function, causing the gene to not function properly. If the inherited gene is faulty, a protein may be made incorrectly or not at all, causing retinal cells to deteriorate and leading to vision loss.
Some gene mutations are more severe than others. Your doctor will try to identify the gene that is malfunctioning and analyze how your vision is affected. Identifying the specific gene variation helps your doctor make a correct diagnosis and allows them to refer you to clinical trials for treatments that could save your vision. Most, but not all, gene variations that cause IRDs may now be identified by genetic testing.
Inherited Retinal Disease Symptoms & Signs
Signs and symptoms of inherited retinal diseases vary according to the specific disease. In general, signs and symptoms may include
- blurred vision,
- blind spots in the center of the visual field,
- inability to see color,
- loss of peripheral vision,
- loss of visual acuity,
- loss of contrast sensitivity,
- tunnel vision, or
- in severe cases, blindness.
How are inherited retinal diseases treated?
Treatment is available for some inherited retinal diseases, but research is still underway to develop therapies for different IRDs. These treatments aim to slow the progression of the disease, restore some vision to patients with targeted therapies, or actively simulate vision with a retinal prosthetic device. Treatment of the retinal disease may be complex and sometimes urgent.
Clinical trials for IRDs include:
- Neuroprotective agents: Neuroprotective agents are drugs that work to prevent the death of cells in the eyes, with the aim of stopping the degeneration of light-sensitive cells in the eye called cones and rods.
- Gene therapy: Gene therapy aims to stop the disease or improve the body's ability to fight the disease by replacing a defective gene or adding a new gene. Currently, gene therapy is limited to treating IRDs caused by a single gene.
- Retinal prosthetics: Retinal prosthetics use a microchip to transform pictures recorded by a camera into impulses that are transmitted wirelessly to the brain, restoring vision for people with specific IRDs.
Who is part of the care team for inherited retinal diseases?
People with IRDs are generally treated (if treatment is available for the IRD concerned) and supported by various medical experts. These medical experts work as a team, as IRDs are complex diseases that can have a wide range of consequences for patients and their families. The care team is typically comprised of:
- IRD expert, who is often a retina specialist, pediatric ophthalmologist, or neuro ophthalmologist
- Genetic counselor
- Low-vision expert, who specializes in assessing vision loss and directs patients to methods and tools that can help them gain independence
- Social workers
- Education specialists
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Medically Reviewed on 11/23/2022
Francis PJ. Genetics of Inherited Retinal Disease. J R Soc Med. 2006;99(4):189-191. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1420779/
Stuart A. Inherited Retinal Diseases. American Academy of Ophthalmology. https://www.aao.org/eyenet/article/inherited-retinal-diseases
Fischer D. Diagnosis and Management of Inherited Retinal Dystrophy. Medscape, https://reference.medscape.com/recap/947522