World Sight Day 2020: US & Canada Cost-of-Illness study launch

World Sight Day 2020: Retina International Announce the launch of the US & Canada Cost-of-Illness study.

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Retina International, Dublin, World Sight Day, October 8th: Inherited Retinal Dystrophies (IRDs) in the USA and Canada result in a socio-economic burden of up to US$31.7 billion and CAN$1.6 billion respectively for a single year. A new study further highlights the significant impact of IRDs on the wellbeing of patients and their families which contributes to two thirds of total costs; and on the productivity of patients and their families in the USA and Canada, and that the burden of these diseases is not appropriately captured by current mechanisms of health assessment.

Inherited retinal dystrophies (IRDs) represent a diverse group of progressive, visually debilitating diseases for which, until recently, there have been no effective treatments.

The prevalence and impact of IRDs at a national and global level is largely undocumented. Patients and the organisations who represent them, along with health care providers and scientists, have witnessed the stark reality of life with an IRD and understand the impact on wellbeing, on mental health, as well as the socioeconomic burden. Lack of data in this area hinders the development and funding of vision support and clinical services, treatments and the planning and implementation of clinical trials.

There is an urgent need for a stronger evidence base on the impact of IRDs to support value-for-money proposals to regulatory bodies for therapies that are already approved and for those that are progressing through clinical trials towards the market. This evidence base also highlights the importance of investment in research that will aid the developments of treatment for unmet need.

Deloitte Access Economics was engaged by Retina International, together with a patient-led multi-stakeholder consortium, to estimate the disease burden and economic impact of IRDs in the United States of America (USA) and Canada from a societal perspective – a cost-of-illness study. This approach estimated the number of people with IRDs in a single year prior to the impact of COVID-19 and the costs attributable to IRDs in that time period.

The study shows that, in both the USA and Canada, the impact on the wellbeing and productivity of the affected individual and their families was significant.

Impacts on wellbeing (years of quality of life lost) were greatest and accounted for 63% (up to US$20.043 billion), and 66% (CAN$1.071 billion) of total IRD costs in the USA and Canada respectively. Productivity costs (cost relating to employment) were the second highest burden in both the USA and Canada, amounting to US$4.056 billion, and CAN$205.1 million, respectively. Persons with an IRD in the USA and Canada were 28.8% and 24.4% less likely to be in paid employment than the general population. In the USA and Canada IRDs resulted in a 0.3% and 1.4% reduction in productivity while at work respectively.

The financial burden of IRDs is primarily borne by the affected individuals and their families, the study revealed.

In both the USA and Canada, the cost attributed to health systems was low at US$2.216 billion and CAN$37.8 million respectively. This shows that those with a vision impairment do not engage frequently with health care professionals. However, the societal effects and costs of IRDs that are borne outside of the healthcare system are not captured in most reimbursement assessment processes, making it difficult to assess the true cost of these diseases, and the value of potential therapies. This study extends beyond the conditions assessed in the cost-of-illness study of ten IRDs in the UK and the Republic of Ireland to cover fourteen forms of IRDs, several of which are the subject of current clinical trials:

Achromatopsia, Bardet-Biedl Syndrome, Best Disease, Blue Cone Monochromacy, Choroideremia, Cone Dystrophy, Cone-Rod Dystrophy, Leber Congenital Amaurosis (LCA)/EOSRD, Leber Hereditary Optic Neuropathy (LHON), Retinitis Pigmentosa, Rod-Cone Dystrophy, Stargardt Disease, Usher Syndrome, and X-Linked Retinoschisis.


Launching the report during Vision Awareness Month in the USA, Todd Durham, PhD, Vice President, Clinical & Outcomes Research with Foundation Fighting Blindness said “This study illustrates how difficult it is to estimate the population-level prevalence for conditions that require clinical exams and genetic testing, especially since genetic testing is not widely accessible. Apart from this methodologic challenge, the most striking result from this study is that the US societal costs due to inherited retinal diseases are not attributable to health care utilization, like visits to ophthalmologists or hospitalizations due to accidents. Rather, the greatest costs are due to the loss of well-being (anxiety and depression) of affected individuals and their families and reduced participation in the workforce. What this means to me is that the most valuable new therapies will not only improve vision or slow the progression of vision loss. They will also lead in the long-term to less strain on mental health and will enable affected individuals to pursue their chosen professional and educational goals.”


Doug Earle, President & CEO, Fighting Blindness Canada, agreed “This landmark study provides clear evidence on how living with an Inherited Retinal Disease causes significant impacts on daily life, wellbeing, mental health, quality of life and employment status. It reinforces what I hear from Canadians every day.  This is a message to policymakers that new treatments that restore sight will transform lives.”

From the clinical perspective Dr. Robert Koenekoop, Chief, Paediatric Ophthalmology, Montreal Children’s Hospital, McGill University Health Centre, Montreal, Canada stated that “This report puts a number on what we as clinicians already know-that having an inherited retinal disease has broad economic and health impacts for individuals, their families and society. As the first treatments for inherited eye diseases are starting to enter the clinic this data demonstrates the importance of ensuring that they are accessible to Canadians.”

The full publications can be downloaded on Retina International’s “Know Your Code” portal at the following link:


For further information on this study Contact:



The socioeconomic burden of these IRDs in the USA and Canada was estimated using a cost of illness methodology applying a prevalence approach (Larg & Moss 2011). The analysis was based on a targeted literature review and primary data collection.



This study was funded and supported by a consortium of patient organizations and industry partners led by Retina International, who recognized the need to better understand the real-world impact of inherited retinal dystrophies (IRDs) in the United States of America (USA) and Canada. The consortium collaboration partners involved in this study were Applied Genetic Technologies Corporation (AGTC), Fighting Blindness Canada, Foundation Fighting Blindness USA, The Janssen Pharmaceutical Companies of Johnson and Johnson, Novartis Pharma AG, and Retina International. Each partner funded and assisted in the design of the project and recruitment of survey participants.

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