Inherited retinal diseases (IRDs) are a diverse group of more than 50 genetic conditions that primarily affect the retina, which is the thin, light-sensitive layer at the back of the eye that works like the film in a camera. It captures what we see and sends the visual information to your brain for processing.
In people with an IRD, there is a change in one of the genes that keep the retina’s light-sensing cells called rods and cones healthy and working. Because those cells don’t get the instructions they need, they slowly break down over time. That’s why vision loss with IRDs is usually gradual, and why it affects everyone a bit differently. Some loss their peripheral vision and others may lose their central vision. For some, it can eventually lead to blindness.
Some of the more common IRDs are Retinitis Pigmentosa, Stargardt disease, Cone and Cone-rod dystrophies, Choroideremia, and Leber Congenital Amaurosis or LCA.
Early signs and symptoms families often notice
Symptoms depend on which retinal cells are affected and the specific gene involved, but some patterns are common:
- Night blindness (nyctalopia): Difficulty seeing in dim light or at night is often an early sign, especially in retinitis pigmentosa.
- Loss of peripheral (side) vision: People may bump into objects, miss steps, or feel they have “tunnel vision.”
- Reduced central vision: Trouble reading, recognising faces, or seeing fine detail can occur in conditions like Stargardt disease or cone dystrophies.
- Colour vision changes and light sensitivity: Some IRDs affect colour perception or cause discomfort in bright light.
- Progressive nature: Most IRDs are degenerative, meaning symptoms usually worsen over time, though the speed of progression varies.
Because symptoms can be subtle at first, families sometimes notice changes in behaviour, such as avoiding night activities or struggling at school before a formal diagnosis is made.
How IRDs are diagnosed
Diagnosis usually starts with a comprehensive eye examination by an ophthalmologist, often a retina specialist. Key steps typically include:
- Detailed history: Age of onset, family history of vision problems, and specific symptoms.
- Retinal imaging: Tests such as optical coherence tomography (OCT), fundus photography and Autofluorescence imaging show structural changes in the retina.
- Functional testing: Electroretinography (ERG) measures how well the retina responds to light and changes in lighting which can then support an IRD diagnosis.
- Genetic testing: DNA testing identifies the specific gene mutation causing the condition.
In Australia, having genetic testing is now a normal part of care if you have been diagnosed with or are suspected to have an inherited retinal disease. The test can give you and your family real clarity: it helps confirm exactly which condition you have and seek counselling on how it may be passed down in your family, what to expect over time, and whether you might be eligible for a clinical trial or a gene-specific treatment.
Current treatment and management options
- Low-vision rehabilitation: Services such as orientation and mobility training, assistive devices, and workplace or school adjustments can maximise existing vision and independence.
- Regular monitoring: Ongoing care with a retina specialist helps track progression, manage complications (such as cataracts or macular oedema), and update support needs.
- Clinical trials and research: Numerous studies are exploring gene therapies, cell-based treatments, and neuroprotective strategies. Registering on research databases (for example, the Australian Inherited Retinal Disease Registry) can help families learn about relevant trials.
- Approved gene therapy in Australia: For a small subset of patients, the gene therapy Luxturna (voretigene neparvovec) is approved by the Therapeutic Goods Administration (TGA). Eligibility depends on confirmed genetic diagnosis and specific clinical criteria.
While not every family will have access to a disease-modifying treatment today, rapid advances in gene editing, gene augmentation, and retinal imaging mean the treatment landscape is evolving.
Supporting your family emotionally and practically
Receiving an IRD diagnosis can be overwhelming. Practical steps that often help include:
- Asking your specialist for a clear explanation of the specific IRD type and expected course.
- Connecting with peer support groups and organisations.
- Planning ahead for education, employment, and mobility needs, especially for children and young adults.
- Keeping copies of genetic test results and clinical reports, which are important for future trials or second opinions.
For many families, combining medical care, low-vision support, and up-to-date information offers the best path to living well with an inherited retinal disease.
For more information, general understanding, or specific concerns, consult Dr Deepa Taranath at iSight Specialists.
