Inherited Retinal Disease Testing

This group of rare degenerative diseases is caused by more than 300 genes affecting the retina. It can lead to significant vision loss and blindness, which is why genetic testing is so important. This group of diseases affects more than 2 million people around the world.

Some people experience a gradual loss of vision. And some people are born with it.

What Is Inherited Retinal Disease Testing?

Testing for these retinal diseases consists of collecting and analyzing a person’s DNA. This will help detect genetic variants or changes that could possibly lead to one of these diseases.

Catching these retinal diseases early will improve their medical management. Knowing what’s ahead, you can access the latest treatment options or qualify for study participation.

Who Should Get Tested?

You should get tested if you or one of your children already had an inherited retinal disease (IRD) diagnosis associated with a confirmed gene change. Getting a diagnosis is a huge help. This is because many genes are associated with retinal disorders. This is because the person reading your test will need to know which mutation(s) to search for.

How Is IRD Testing Performed?

This test involves you providing a sample of your DNA. This could be through blood or saliva. The lab will then examine it and try to identify any mutations or changes that could result in vision loss. This process uses a technique called DNA sequencing. This is when a machine reads, so to speak, your gene instructions, then looks for and identifies mutations. These are compared with a panel of hundreds of genes that are already known to have resulted in mutated IRDs.

PLEASE NOTE: It’s extremely important to have your testing done with an optometrist. This is because genetic testing doesn’t always provide a clear result. Therefore, you need someone who truly knows what they are doing.

What Are the Inherited Retinal Diseases?

There are, unfortunately, many IRDs. They include the following.

• Retinitis pigmentosa
• Cone-rod dystrophy
• Retinal detachment
• X-linked congenital stationary night blindness
• Choroideremia
• Diabetic retinopathy
• Leber congenital amaurosis
• Stargardt disease
• Macular edema
• Macular degeneration

The most common of these is retinitis pigmentosa. It affects about one in every 3,000 people.

How Are IRDs Treated?

Your optometrist in New Albany, MS, can go over this with you. However, in some cases, gene replacement therapy can be used. This process replaces a disease-causing gene with a functional copy of that gene. There may be other treatments available. Your eye doctor will make a recommendation. Then you can decide what you want to do.

Want to be Tested for Inherited Retinal Diseases?

Ready to be tested? Please Contact Weeden Eye Clinic today. Our caring team of professionals has the experience needed to test and diagnose any potential IRDs properly. So don’t wait! Your vision could depend on it.