You can find additional information in the form of answers to some frequently asked questions (FAQs) about inherited retinal disease below.
Are there any lifestyle changes that a person can make to slow down the progression of IRDs?
General health and eye health strategies are important for people with IRDs. These include:
- Eating a healthy diet, with plenty of vegetables and healthy fats
- Keeping active
- Regular consultations with your eyecare provider
- Maintaining good physical health (i.e. monitoring and treating, if needed, blood pressure and cholesterol).
- Quit smoking
Generally, there are no strong associations with environmental factors (diet, smoking, exercise etc) and IRDs. However, there are some exceptions. For example, Refsum disease is a form of syndromic IRD which needs careful dietary modifications to slow disease progression.
Your ophthalmologist is the most appropriate person to advise you on the best lifestyle considerations for your situation.
Why do family members with the same gene show variations in the severity of their IRDs?
This is a great question, and comes back to the complexity of the genetics behind IRDs. In short, some genes have “variable penetrance”, which means that different people with the same gene can experience very different visual symptoms. In addition, there can be interactions with other genes in an individual, which can change the prognosis for that person.
In short, we are still learning a lot about the variability of IRDs, and current research programs are investigating this in depth.
Is it true that RP can cause problems with sleep?
People with IRDs often experience difficulty with sleep, particularly as the condition progresses and they have more vision loss. A study in 2001 showed that people with retinitis pigmentosa showed, in relation to those without a vision problem:
- poorer sleep quality
- longer times to fall asleep
- shorter sleep duration
- higher use of sleeping medication 1
It is thought that these symptoms are related to the loss of light input to the brain, as the photoreceptor cells in the retina die over time.
Is it possible to stop my children from inheriting the gene that has caused my IRD?
Family planning is an important part of the journey for people with IRD. Your doctor and/or a genetic counsellor will be able to give you an indication of the risk of passing down your IRD gene to your children, and provide counselling on reproductive options.
For more information, see our section on “Genetic testing”.
How does having a genetic test result affect the management of a person with IRD?
Genetic testing is a personal choice, and you should receive counselling from a genetic counsellor or your doctor before making the decision to proceed. See our section on “Genetic Testing” for more information.
If you decide to seek a genetic test, this is likely to provide an answer for approximately six out of ten people. 2
This genetic answer (also known as a “molecular diagnosis”) can help your doctor to better advise you on:
- Family planning. If you are considering having, or have, children, knowing the gene that you have can help identify the chance that your child will also have that gene.
- Management strategies. In some forms of IRD, it may be advisable to change your diet (i.e. Refsum disease), or seek assessment from other health professionals (i.e. hearing assessments in Usher syndrome). Knowing the gene you have can help your doctor to identify the best healthcare team for your needs.
- Eligibility for clinical trials. Whilst there is only one IRD gene therapy approved at the moment (Luxturna®, for mutations in the RPE65 gene), more are in the pipeline. Knowing what gene you have, and registering on a patient registry, means that you can be contacted if an opportunity becomes available for you to become involved in research studies.
What do people with IRDs, or their carers, think about emerging technologies such as gene therapy?
An important part of research into these new technologies is gathering an understanding of how people with IRDs feel about the treatments, and identifying any potential barriers for uptake.
In 2021, Retina Australia funded a national survey of people with IRDs (and carers), led by Associate Professor Heather Mack, Associate Professor Lauren Ayton, Professor John Grigg and Associate Professor Fred Chen.
- Most of the survey respondents (92%) said that they would try gene therapy if it was available now to them or their family members for IRD.
- However, only 28.3% agreed that they had good knowledge of gene therapy and almost 60% of respondents did report at least one barrier to their future uptake of the treatment.
- Most obtained information about gene therapy from the internet (49.3%). Knowledge gaps were present regarding methods and outcomes of gene therapy.
- Most respondents saw economic value in treatment, with 79% agreeing that government subsidy would be an effective use of taxpayer money.
The team are now working on an international survey study, to compare Australian views with global views, and also developing education materials for people on emerging gene therapies.
If you would like information about participating in current research, refer the Retina Australia Research Project and Clinical Trial Register.
What level of vision do you need to access emerging IRD treatments?
The level of vision needed for a person to be included in a clinical trial of an emerging inherited retinal disease (IRD) treatment varies, depending on the intervention. The good news is that there are treatments being developed for all levels of vision.
In general, treatments like gene therapy are targeted at those with more remaining vision (i.e. earlier disease). This is because the gene therapy requires there to be residual photoreceptor cells in the retina to treat.
In comparison, treatment strategies like stem cells, optogenetics and vision prostheses (bionic eyes) may be options for people with very little or no vision left, as they are not as reliant on remaining photoreceptor cells.
All of these treatments (with the exception of Luxturna® gene therapy) are still experimental, and not widely accessible. Your ophthalmologist is the best person to give advice on what clinical trials, if any, may be suitable for your condition.
Is it possible to get an eye transplant?
Like many of the IRD treatments being developed currently, eye transplants were once believed to be science fiction. However, there are now groups around the world working on using technologies, such as stem cells, to manufacture an eye.
Whilst it is now possible to use stem cells to grow most of the tissues needed in an eye, it is more challenging to grow nerves between different cell types. In other words, scientists have been able to build the scaffold of an eye, but the connections between the different parts of the eye are harder to replicate.
Work in this space continues, but does face significant technical challenges, and may not be successful. Watch this space!