Understanding Inherited Retinal Dystrophies: What They Are and What You Can Do
20 October 2025
General
Image Description: A male patient seated at a slit lamp biomicroscope, with his chin and forehead on the rests, while an optometrist examines his anterior eye structures using the device.
Written for Blind Low Vision NZ by Nicholas Willson, Optometrist, Specsavers Launceston, Tasmania.
What are IRDs?
Inherited retinal dystrophies (IRDs) are a group of rare eye conditions caused by changes in genes passed down through families. They gradually affect the retina – the light-sensitive layer at the back of the eye. IRDs can begin at any age and may cause progressive vision loss or blindness. IRDs affect how the retina works. They include conditions like retinitis pigmentosa (RP), Stargardt’s disease, and Leber congenital amaurosis (LCA). Symptoms and rates of vision loss can vary widely, even within the same family.
Signs to Look Out For
- Night blindness or poor vision in low light.
- Loss of peripheral (side) vision.
- Sensitivity to bright light.
- Colour vision problems.
- Blurry or missing areas in central vision.
Who is at Risk?
Most IRDs are inherited. Having a family history increases your risk, but IRDs can also occur without one.
Diagnosis and Treatment
Optometrists or an ophthalmologist can detect signs of IRDs through a combination of eye exams and , scans such as OCT (optical coherence tomography), which provides detailed 3D images of the back of the eye, and the electroretinogram (ERG), which measures how the retina responds to light, and genetic testing. You can find more information about OCT on the Specsavers website.
Treatments like gene therapy (e.g. for RPE65-related LCA – a severe type of IRD associated with mutations of the RPE65 gene) are now available in some countries, and clinical trials are ongoing in areas like gene editing and stem cells. While there is no cure for most IRDs, some can now be treated to slow their progression or preserve remaining vision. Research is moving fast, and new treatments are beginning to offer hope – even for people with more advanced conditions.
Support and Empowerment
Blind Low Vision NZ can also provide low vision tools and training to help you maintain independence. Call 0800 24 33 33 or email info@blindlowvision.org.nz.
Learn more about Inherited retinal dystrophies and genetic eye conditions at Retina NZ’s website.
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