What is Genetic Testing for eye disease?
Genetic testing is a simple blood or saliva test that looks for small changes in your genes. Genes are like instruction books inside your body. Sometimes, a small mistake in these instructions can cause eye diseases that run in families, such as inherited retinal diseases (IRDs). This test helps doctors find that mistake.
How it finds the real cause of vision problems
Many inherited eye conditions look very similar during an eye exam. Two people might have the same symptoms but different gene changes. Genetic testing helps:
- Give a clear name to the condition: Instead of just “retinal disease,” the test can show which gene is involved.
- Show how it may change over time: Some gene changes cause slow vision loss, while others progress faster.
- Explain risks for family members: It can show if brothers, sisters, or children might also be at risk.
In Australia, many people with IRDs have received a clear genetic answer after years of not knowing the exact cause.
How results help your doctor plan your care
A genetic result is not just a label. It directly affects how your ophthalmologist can address the problem:
- Better monitoring: Your doctor knows what to watch for and how often to check your eyes.
- Personalised advice: You get information that fits your specific condition, not general advice.
- Family planning: If you are thinking about having children, the result helps you understand the chances of passing the condition on and discuss options with a counsellor.
This means your care is more tailored to you.
Opening doors to new treatments and trials
Most inherited eye diseases do not yet have a cure, but many new treatments are being studied. Some of these treatments only work for people with certain gene changes.
For example:
- The only approved gene therapy in Australia (Luxturna) is for people with a specific gene change called RPE65. A genetic test is needed to see if someone is eligible.
- Many clinical trials for conditions like Stargardt disease, choroideremia, and certain types of retinitis pigmentosa require a known gene result to join.
Australian eye specialists and research centres take part in these trials and can tell you if you might be suitable. Programs like the Australian Inherited Retinal Disease Registry help match patients with new research and keep them informed about opportunities.
What this means for you and your family
For people and families dealing with an inherited eye condition, genetic testing offers:
- Clarity: A clear answer can reduce worry and help you understand what is happening.
- Better planning: Schools, employers, and low-vision services can give the right support when they know more about your condition.
- Future options: As new treatments are approved, having a known gene result means you are easier to contact when something becomes available.
In many parts of Australia, you can access genetic testing through special eye clinics after a referral from your ophthalmologist.
Your next step: Talking to your ophthalmologist
If you or someone in your family has been told they might have an inherited eye disease, you could ask your eye doctor:
- “Could my eye condition be genetic?”
- “Am I able to have genetic testing?”
- “How would the result change my care or my family’s risk?”
- “Are there any trials or registries I should know about?”
Your doctor can refer you to a genetic eye clinic or a local genetic service if it is suitable. Even if there is no cure today, having a genetic diagnosis helps you and your family be ready for new treatments as they arrive.
Talk to Dr Deepa Taranath at iSight Specialists for more information.
