What Are Inherited Retinal Diseases?
Inherited retinal diseases (IRDs; also called “inherited retinal dystrophies or degenerations”) are a group of rare genetic eye conditions that damage the retina’s light-sensitive cells, causing vision loss that can worsen over time.
IRDs can affect people of all ages and are estimated to affect around 1 in 3,000 people worldwide.
IRD Conditions
The Cost of Inherited Retinal Diseases (IRDs)
Inherited retinal diseases (IRDs) have a significant impact that extends far beyond healthcare. They affect individuals, families, healthcare systems, employers, and society, creating economic, social, and personal costs throughout a person’s lifetime.
Understanding these costs is essential for informing health policy, improving access to care and support, and ensuring that the full impact of IRDs is recognised when decisions are made about research, services, and emerging treatments.
Understanding the Costs of IRDs
Direct Costs
Direct costs are the expenses associated with managing an inherited retinal disease. These include medical costs, such as appointments, diagnostic tests, treatments, and hospital care, as well as non-medical costs including rehabilitation services, assistive technologies, home adaptations, transportation, and personal support services.
Indirect Costs
Indirect costs reflect the broader economic impact of IRDs on individuals, families, and society. These may include reduced employment opportunities, loss of productivity, time away from work for both patients and caregivers, disability supports, and the wider financial consequences associated with vision loss.
Research has shown that productivity losses experienced by people living with vision impairment and their caregivers represent one of the largest components of the overall economic burden.
Intangible Costs
Many of the most significant impacts of IRDs cannot easily be measured in financial terms. Vision loss can affect independence, education, mental wellbeing, social participation, and overall quality of life for individuals and their families.
Although these intangible costs are difficult to quantify, they represent an important part of the lived experience of people affected by retinal conditions and should be considered alongside economic measures when evaluating the impact of IRDs.
Why This Matters
Historically, most research examining the economic burden of blindness has focused on vision loss across all causes, particularly age-related conditions. Comparatively little evidence has been available on the specific social and economic impact of inherited retinal diseases, many of which affect people from childhood or early adulthood.
As new therapies and innovations become available, understanding the full cost of IRDs is increasingly important. Robust evidence helps policymakers, healthcare providers, and payers make informed decisions about investment in research, access to treatments, and the support services needed by people living with these conditions.
Building the Evidence Base
To address this evidence gap, Retina International supported landmark Cost-of-Illness studies in the Republic of Ireland and the United Kingdom. These patient-centred studies provide valuable real-world evidence on the burden of inherited retinal diseases for individuals, families, healthcare systems, and society.
The findings demonstrate that the impact of IRDs extends well beyond direct healthcare costs, highlighting the importance of considering economic, social, and quality-of-life outcomes when developing health policy and planning future services.
Related RI Publications
The Impact of Inherited Retinal Diseases in the Republic of Ireland (ROI) and the United Kingdom (UK) from a Cost-of-Illness Perspective
This peer-reviewed publication summarises the findings of the landmark Cost-of-Illness studies and explores the barriers created by limited awareness and data on inherited retinal diseases. It provides important evidence to support policy development, research investment, and improved access to care and emerging treatments.
Innovation in Research
What are Syndromic IRDs?
Examples of Syndromic IRDs include:
- Bardet-Biedl Syndrome
- Alström Syndrome
- Refsum Disease
- Senior-Løken Syndrome
- Joubert Syndrome
- Cohen Syndrome
- and others.
Usher Syndrome is a syndromic inherited retinal disease
These conditions affect the retina as well as other organs or body systems:
- Bardet-Biedl Syndrome
- Alström Syndrome
- Refsum Disease
- Senior-Løken Syndrome
- Joubert Syndrome
- Cohen Syndrome
- Neuronal Ceroid Lipofuscinosis (Batten Disease)
- Alport Syndrome (ocular manifestations)
- Kearns-Sayre Syndrome
