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IRD Toolkit

Supporting knowledge, confidence, and advocacy for people affected by inherited retinal diseases

Inherited retinal diseases (IRDs) are a diverse group of genetic conditions that affect the retina and can impact vision at any stage of life.

This toolkit provides accessible resources to help people living with IRDs, families, caregivers, patient organisations, and advocates better understand these conditions, navigate the patient journey, engage with research, and advocate for improved outcomes.

What are IRDs?

What are Inherited Retinal Diseases?

Inherited retinal diseases are a group of rare eye conditions caused by changes in genes that affect the function and health of the retina.

The retina is the light-sensitive layer at the back of the eye responsible for capturing visual information and sending signals to the brain. When genetic changes affect retinal cells, vision may gradually decline or, in some cases, be affected from birth.

IRDs include many different conditions, each with unique characteristics, progression patterns, and impacts on individuals and families.

Examples of inherited retinal diseases include:

  • Retinitis pigmentosa (RP)
  • Leber congenital amaurosis (LCA)
  • Stargardt disease
  • Usher syndrome
  • Choroideremia
  • Best disease
  • Cone and cone-rod dystrophies

Learn more about IRDs here.

A Patient-Centred Introduction

An IRD diagnosis can bring many questions:

  • What does this diagnosis mean?
  • How will my vision change over time?
  • Is genetic testing available?
  • Are there treatments or clinical trials?
  • How can I get involved in research?
  • What support is available?

This toolkit provides resources to help individuals and families understand their condition and make informed decisions throughout their journey.

Genetics

Genetics of IRDs

Inherited retinal diseases (IRDs) are caused by genetic changes (mutations) that may be passed down from one or both parents. These changes affect genes essential for the retina to develop and function properly, which can lead to damage to retinal cells and vision loss.

More than 300 genes associated with IRDs have been identified, highlighting the wide genetic diversity of these conditions. In some cases, the gene responsible is still unknown. Ongoing research and genetic testing are helping improve understanding and support the development of new treatments.

Some IRDs are linked to changes in a single specific gene. For example, choroideremia is caused by changes in the CHM gene, while Stargardt disease is associated with changes in the ABCA4 gene.

However, similar retinal conditions can be caused by changes in different genes. For example, retinitis pigmentosa (RP) can result from mutations in many different genes, as can cone-rod dystrophy, macular dystrophies and congenital stationary night blindness. This genetic complexity helps explain why people with the same diagnosis may have different genetic causes and experiences of the condition.

Learn more

Leber Congenital Amaurosis (LCA)

Learn more about LCA

Usher Syndrome

Learn more about Usher Syndrome

Choroideremia

Learn more about Choroideremia

Stargardt Disease

Learn more about Stargardt Disease

IRDs

Explore our IRD Explainers Here
Cost

Cost of IRDs

Costs associated with illness can be divided into three main categories:

  1. Direct costs: Expenses directly related to illness, including medical care, support services, home care and travel.
  2. Indirect costs: Financial and productivity losses caused by illness or disability, such as reduced working hours, time off work, lost income and disability benefits.
  3. Intangible costs: The impact on quality of life and wellbeing for individuals, caregivers and families. These costs are difficult to measure financially and can be assessed using questionnaires or measures such as Disability-Adjusted Life Years (DALYs). One DALY represents the loss of one year of full health, allowing comparisons between the impacts of premature death and disability, including blindness.
Explore our Cost of Illness Studies
Indirect Costs

Indirect Costs and the Impact of Inherited Retinal Diseases

Vision loss can create significant economic and social costs, including lost productivity for people affected and their carers, hospitalisations, support services, falls and mental health challenges. It can also affect independence, wellbeing and quality of life.

The full impact of inherited retinal diseases (IRDs), particularly conditions that affect people from birth, remains poorly understood. Better evidence is needed to understand the medical, economic and social burden of IRDs and to support fair access to new treatments.

A published review examines the impact of IRDs in Ireland and the UK, drawing on two landmark cost-of-illness reports. It highlights the challenges faced by individuals and families, as well as the wider impact on society.

Read our review
Eye Care

Importance of Eye Care

Vision loss results in significant economic costs for the patients, their carers and the rest of society. While age-related visual impairments are increasing as the global population ages, inherited forms of vision loss are a significant contributor to economic and social costs of blindness. This is because they affect babies, young children and young adults and therefore can affect the entire life of a person. Vision loss affects not just the individual. It impacts the caregivers, family and community.
The Economic Impact of Vision Loss
Impact on quality of life

Severe vision loss can cause emotional distress comparable to, or greater than, other serious conditions.

Healthcare costs

Visual disorders place a substantial burden on health systems. In Australia, their overall cost ranked seventh among all diseases.

Direct and indirect costs

The impact extends beyond healthcare to include daily living, independence, employment and the need for support.

Evaluating treatments

Economic assessments help determine whether interventions offer good value for money, often using a measure called the incremental cost-effectiveness ratio (ICER).

Prioritising resources

Understanding these costs helps health systems allocate limited resources effectively and sustainably.

Care

Caring For Your Eyes

It is important that you know your family’s eye health history; has anyone been diagnosed with a potentially hereditary disease or condition? This will help to determine if you are at higher risk for developing an eye disease or condition. Thereafter, incorporate care of your eye health into your regular daily routine and your annual health care check-up.
Steps to take:
Have a Comprehensive Dilated Eye Exam

The painless test is one of the best things you can do to make sure that your eyes are healthy. The test looks for common vision problems and early stages of eye diseases that have no obvious early warning signs, such as glaucoma, diabetic eye disease and age-related macular degeneration. Regular comprehensive eye exams can help you protect your sight and make sure that you are seeing your best. The American Academy of Ophthalmology recommends that everyone gets a baseline eye examination at age 40 – follow up screening will depend upon the results of the baseline exam – and annual/biennial eye examinations from age 65.

Eat Well

Eating a diet rich in fruits and vegetables, particularly dark leafy greens such as spinach, kale, or collard greens is important for maintaining healthy eyes. Research has also shown there are eye health benefits from eating fish high in omega-3 fatty acids, such as salmon, tuna, and halibut.

Maintain a Healthy Weight

Being overweight or obese increases your risk of developing diabetes and other systemic conditions; this can lead to vision problems such as diabetic eye disease or glaucoma.

Avoid Smoking

Similar to the rest of your body, smoking is bad for your eyes. Smoking is linked to an increased risk of developing age-related macular degeneration, cataracts, and optic nerve damage, which can all lead to blindness.

Wear Sunglasses/Protective Eyewear

Sunglasses protect your eyes from the sun’s harmful ultraviolet rays. When purchasing sunglasses look for ones that block 99 to 100 percent of both UV-A and UV-B radiation.

Protective eyewear (safety glasses and goggles, safety shields, and eye guards) are designed to provide the correct protection for potentially dangerous activities, both at work and during recreational activities.

Reduce Eye Strain

If you spend a lot of time at the computer you sometimes forget to blink and your eyes can get fatigued. Try the 20-20-20 rule: Every 20 minutes, look away from the screen across the room (about 6 metres/20 feet in front of you) for 20 seconds.

Clean Your Contact Lenses and Hands Properly

To avoid the risk of infection, always wash your hands thoroughly before putting in or taking out your contact lenses. Make sure to disinfect contact lenses as instructed and replace them as appropriate.

Eye Health

Checking Your Eye Health

There are a number of simple tests that can be performed in the comfort of your home to help you to identify potential vision problems that demand professional attention. However, care must be taken when interpreting self-test results, as these tests are not designed to pick up all problems, e.g. blind spots, peripheral vision issues, intra-ocular pressure, etc.
Please remember that these tests are not a substitute for regular dilated eye exams conducted by your Eye Care Professional.
The Amsler Grid

This is a test for macular degeneration. You may use it to monitor your vision between visits to your ECP. The test consists of a grid of squares. Wearing your normal corrective lenses you test each eye one at a time. With one eye covered and the grid at arm’s length from you, look at the centre of the grid. If your eye is functioning properly, you should be able to see the centre white dot and the four corners and sides of the grid. The lines should appear to be straight and continuous from top to bottom and side to side. Any or worsening distortion in the grid should be discussed with your ECP.

It is worth noting that reading glasses may interfere with the grid. If you wear glasses consult with your ECP to establish a baseline view of the Amsler Grid against which any changes and deterioration may be measured.

The Ishihara Test

This is a colour perception test for red-green colour deficiencies. The test consists of a number of coloured plates, called Ishihara plates, each of which contains a circle of dots appearing randomized in colour and size. Within the pattern are dots which form a number or shape clearly visible to those with normal colour vision, and invisible or difficult to see to those with a red-green colour vision defect. Other plates are intentionally designed to reveal numbers or shapes only to those with a red/green colour vision deficiency, and to be invisible to those with normal red/green colour vision.

Visual Acuity Test

Typically performed using a standardized Snellen chart, this is an eye exam that checks how well you see the details of a letter or symbol from a specific distance. Visual acuity refers to the ability to discern the shapes and details of the things you see. You may need an eye exam if you feel you’re experiencing a vision problem or your vision has changed. Children frequently take visual acuity tests. Early testing and detection of vision problems can prevent issues from getting worse. Optometrists, driver’s license bureaus, and many other organizations use this test to check your ability to see. Visual acuity is expressed as a fraction: having 20/20 vision means that your visual acuity at 20 feet away from an object is normal. A person with 20/40 vision must be 20 feet away to see an object that people can normally see from 40 feet away.

Professionals

Eye Care Professionals

If there is a suspicion that you have an eye disease, you need to visit an Eye Care Professional (ECP). The ECP that you need to visit will depend upon your symptoms and your location (how eye care is managed within your local healthcare environment). In some countries you can make an appointment directly with an optometrist/ophthalmologist while in other countries you will have to be referred by your family doctor or by an optician/optometrist.
ECPs are largely grouped into 4 categories:
Optician

A health care professional who is trained to supply, prepare, and dispense optical appliances through interpretation of written prescriptions. An optician fits and finishes eyeglass lenses and frames and may also dispense low vision devices, contact lenses, and artificial eyes.

Optometrist

A healthcare professional who specializes in function and disorders of the eye, the detection of eye disease, and some types of eye disease management. An optometrist conducts eye examinations, prescribes corrective contact lenses and glasses, and diagnoses and treats eye diseases and disorders.

Ophthalmologist

A medical physician who specializes in the medical and surgical care of the eye and the prevention of eye disease. An ophthalmologist diagnoses and treats refractive, medical, and surgical problems related to eye diseases and disorder.

Orthoptist

An allied health professional involved in the assessment, diagnosis, and management of disorders of the eyes, extra-ocular muscles and vision. Orthoptists are an important part of the eye care team and work in close association with ophthalmologists, usually in a hospital based setting. They are involved in many areas of care, including paediatrics, neurology, community services, rehabilitation, geriatrics, neonatology and ophthalmic technology.

Questions

Questions for your HCP

Clear communication with your eye care professional (ECP) helps you get the right advice and care. Prepare questions in advance, note any changes in symptoms or medication, and share concerns about daily life. Consider bringing a family member or caregiver for support. Remember, caregivers’ own health matters too. Working together with your ECP and wider healthcare team helps ensure everyone’s needs are addressed.
Questions to ask:
What is my diagnosis? / How will my vision be affected?

A doctor will not be able to give you an exact answer to this question, as everyone is different, and conditions can progress at different rates in different people. They will be able to tell you which parts of your vision are most likely to be affected, for example, your central vision or peripheral vision.

How will it affect my home and work life?

The doctor may be able to give you an example of how the condition will affect an everyday task such as reading or driving.

What is the short-term and long-term prognosis for my disease or condition?

Many conditions will cause your vision to change over time. A doctor will not be able to give you an exact prognosis or time line but may able to give you an idea of what can happen in the short and long term in most cases of your condition.

What caused the disease or condition?

Your condition may be genetic and be influenced by a variety of environmental factors.

Are there local agencies or organisations that can help me learn more about my condition and vision loss?

There may be an organisation or support group that deals specifically with your condition or may be able to give you more information.

Patient Experience: The Importance of Advocacy

What is advocacy?

Advocacy means publicly supporting a cause, raising awareness, and calling for change.

Why is advocacy important?

Advocacy helps people affected by retinal conditions have their voices heard, influence policies, improve access to treatments and services, and support research and development.

Types of advocacy

  • Self-advocacy: Speaking up for your own needs and rights.

  • Citizen advocacy: Working with others to raise awareness and influence change.

  • Independent advocacy: Getting support from someone who can help you express your needs and access services.

Advocacy in practice

Advocacy can involve speaking with healthcare professionals about diagnosis and care, seeking access to support services, or working with patient groups to campaign for change locally and nationally.

Retina International advocates for research, better access to therapies, and the meaningful involvement of people affected by retinal conditions in decisions that impact their lives.

Access our Advocacy Toolkit here.

PPI

Public Patient Involvement (PPI)

Public Patient Involvement (PPI) means involving people affected by health conditions, carers and members of the public as active partners in healthcare research. Their lived experiences and perspectives help shape research priorities, study design, treatment development and healthcare policy. Retina International believes meaningful PPI should be central to research and innovation in the retinal field, helping ensure that decisions reflect the needs and priorities of the people they affect.
Questions to ask:
Patients as partners

PPI means working with or by patients and the public, rather than conducting research to or about them.

Involvement at every stage

Patients and the public can help set research priorities, design and manage studies, interpret findings, share results and support their implementation.

Research that reflects real needs

Lived experience helps identify relevant research questions, meaningful outcomes and treatments that make a difference in everyday life.

Better decisions and value

Patient involvement can help make research and healthcare services more effective, relevant and cost-effective by considering the wider impact of retinal conditions, including vision loss on daily life.

Patient empowerment

Empowered patients have the knowledge, confidence and skills to make informed decisions, manage their health and work in partnership with healthcare professionals.

A role in advocacy and policy

Patients and patient organisations can help influence healthcare policies, improve access to diagnosis and treatment, and ensure the patient perspective is represented in decision-making.

Health literacy matters

Clear, accessible and reliable information helps people understand their condition, assess their options and make informed health decisions.

Working together for change

Retina International supports collaboration across the global retinal community to promote meaningful patient involvement and improve outcomes for people affected by retinal conditions.

Resources & Templates

Practical tools to support your education journey

What is Patient Experience

This RI task force aimed to develop consensus on policy priorities for AMD across three countries, identifying opportunities for collaboration and action at local, regional and global levels. Its deliverable was a set of policy recommendations for people living with AMD.

Click Here

What is PPI

Patient and public involvement – commonly shortened to PPI – is a framework to give lay people an effective and active role in all forms of “healthcare research”.

Click Here

Retina International Advocacy Toolkit (PDF)

This comprehensive resource has been designed to provide a framework for creating and implementing advocacy strategies – from picking your particular battle, gathering & generating the information (data) to support it, to deciding on the most effective lobbying avenues available to you.

Click Here

Retina International Advocacy Toolkit (Word Format)

This comprehensive resource has been designed to provide a framework for creating and implementing advocacy strategies – from picking your particular battle, gathering & generating the information (data) to support it, to deciding on the most effective lobbying avenues available to you.

Click Here
Innovation

Innovation in Research

Innovation in Retinal Research is imperative to continue the design and delivery of accurate and effective therapies to treat IRDs currently without any available therapeutic, as well as to enhance the treatment success of IRDs currently with some treatment options available. Below is a detailed description of current and future innovative therapies which are being explored and improved to treat a variety of IRDs.
Genetic Testing and IRDs

  • Identify the cause: Genetic testing can help identify the gene mutation responsible for an inherited retinal disease. In around one-third of cases, the cause remains unknown.

  • Guide treatment: Results may help determine eligibility for specific treatments, including gene therapies.

  • Understand family risk: Testing can clarify inheritance patterns and potential risks for family members.

  • Identify related conditions: Some genetic conditions can affect other parts of the body as well as the eyes.

  • Access clinical trials: Genetic testing may be required to take part in clinical trials exploring new treatments for IRDs.

  • Seek expert advice: Speak to your ophthalmologist about genetic testing, suitable clinical trials and treatment options.

Natural History Studies and Disease Registries

Because IRDs are rare and only affect a relatively small number of people, there may be gaps in our understanding about the natural course of these diseases. One approach that can be used to address these is to conduct natural history studies. Natural history studies follow a group of people with the disease usually over a period of several years in order characterize how a disease progresses over time. In the case of IRDs, natural history studies may capture valuable information on how disease progression rates may vary between patients with different genetic mutations. A clear understanding of the natural history of a disease is very important to ensure that clinical studies are appropriately designed to accurately measure the clinical benefits of new treatments

The establishment of disease registries for patients with IRDs is another important research development. A disease registry is a database that contains information from people diagnosed with a specific type of disease. My Retina Tracker® is free on-line, registry provided by the Foundation Fighting Blindness where patients diagnosed with an inherited retinal disorder can store information about the progression of their disease and how it impacts their life. These data are accessible to appropriately qualified researchers working in the field of IRDs and may also help them to identify people who may be eligible to participate in studies, although this is not guaranteed.

Click here for details of natural history studies currently enrolling patients.

Available Treatments for IRDs

The development of effective therapies to prevent, cure or slow the rate of disease progression of inherited retinal disorders (IRDs) has been limited to date. However, recent progress in identifying the gene-causing mutations and characterising the disease mechanisms has provided opportunities for development of new therapeutic approaches.

At the current time, there are few approved and available treatments for people with IRDs. These currently consist of a visual prosthetic device (Argus® II Retinal Prosthesis System), and a gene therapy treatment (Luxturna) that was approved by the FDA in the United States in December 2017 and by the EMA in Europe in November 2018, for treatment of patients with IRDs caused by mutations in the RPE65 gene.

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