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The term retinal dystrophy refers to a group of rare genetic eye conditions.
These inherited retinal diseases cause damage to the retina, the light-sensitive tissue at the back of the eye. Some can even cause blindness.
Contact the Retinal Dystrophy Clinic at 412-647-4732 or Retinal.Dystrophy@upmc.edu.
Eye doctors define inherited retinal dystrophies (IRD) as genetic eye conditions that lead to decreased vision over time.
Some IRDs mainly affect the eye's retina and cause vision problems. Others go hand-in-hand with other health problems like kidney disease and hearing issues.
People of all ages can have IRD. Some become apparent in babies, while others don't appear until the teen years or later.
IRDs are rare. They affect about one in 4,000 people worldwide.
Some IRDs have more severe symptoms than others. Most lead to the slow and steady worsening of your eyesight.
There's no cure for IRD. But there may be helpful treatments to improve quality of life or, in some cases, slow down vision loss.
Our team sees people of all ages with suspected or diagnosed IRD, such as:
We also diagnose and manage syndromic IRD affecting other body parts.
These include conditions such as:
Genetic variations in your DNA for specific genes can cause IRD. DNA is the code passed along from your parents' genes.
These gene changes cause cells in the retina to work incorrectly or break down, affecting your vision.
There are more than 100 genes associated with IRDs, with researchers still finding more. What type of IRD you have depends on your genetic makeup.
Many IRDs start in childhood and progress as the years go on.
Whether or not you have an IRD depends on faulty genetic coding that you often inherit from your parents. Or sometimes, a new genetic glitch can occur in early development before you're born.
An IRD isn't contagious, and your lifestyle doesn't cause the disease. It comes from faulty genes.
Gene changes can pass from parent to child. Sometimes IRD skips generations.
IRD may be more or less severe in some people than in others. Other family members may or may not have the same issue.
Genetic counseling can help you:
Loss of vision is the primary symptom of IRD.
And many people with vision loss also get depression where they might start to have:
Different types of IRDs progress at different rates. Many cause retinal degeneration, meaning the disease gets worse over time.
Most IRDs cause slow, gradual vision loss. But how quickly you lose your sight — and to what degree — depends on the type of IRD you have.
Standard tests to diagnose and manage an IRD include:
We also work closely with our research team to bring you clinical trials of new treatments.
The UPMC Retinal Dystrophy Clinic offers a range of treatments and services for those with IRDs. Our eye doctors are world-renowned experts in rare eye disease treatment.
IRD treatments may slow vision loss and preserve your eyesight. They can also improve your quality of life.
Some of our IRD treatment options include:
Magnifying glasses, computer programs that read out loud, and canes can help those with limited vision.
It can help pinpoint what kind of IRD you have. Counselors can also help you understand potential risks to other family members.
No. There's no current cure for IRD. And treatments cannot undo damage to the retina. But they can stop it from getting worse. Our researchers, along with other groups, are working toward finding better treatments and a cure.
The earlier you get a diagnosis, the better your chance of preserving your vision.
By UPMC Editorial Staff. Last reviewed on 2023-04-19.
