Investing in research into vision impairment: The cure is waiting
Stem cell therapy is a promising avenue for tackling visual impairment. Picture: File
Vision impairment is not binary. The vast majority of people will have some sight, but it may be limited to central or peripheral vision, or indeed a distortion in key areas.
It’s not surprising then that age-related macular degeneration, which affects one in four people over the age of 60, is a “retirement-ruiner”.
This week sees more than 500 delegates from 23 countries come to Dublin for the Retina International World Congress. The event brings together scientists and clinicians at the cutting edge of eye research, together with patient advocates and people with a vision impairment, in a concerted effort to pool their collective know-how to advance treatments and cures for sight loss.
Blindness and vision impairment dramatically alter an individual’s life.
Basic activities such as reading, driving, and recognising faces become insurmountable challenges. The psychological impact of sight loss is equally severe. Individuals often experience depression, anxiety, and social isolation.
With growing medical costs, the need for specialised services and support, and lost productivity, the economic burden of visual impairment is also substantial.
However, investing in research to cure or mitigate sight loss not only positively impacts our health, human dignity, and wellbeing, but it can also transform this economic landscape.
For instance, early detection and treatment of eye conditions such as diabetic retinopathy and age-related macular degeneration can prevent progression to blindness, thereby maintaining individuals’ productivity and reducing healthcare costs.
Moreover, treatment advances now hold the promise of restoring sight. Gene therapy, which involves repairing or replacing defective genes responsible for certain types of blindness, has shown promising results. For example, Luxturna, a gene therapy for a specific type of inherited blindness, has restored vision in patients who were previously losing their sight.
Three Irish citizens have been recipients, although treated in London and Paris while waiting for the HSE to catch up with European counterparts. Until now, it would have been regarded as a ‘miracle’ to restore such vision.
Stem-cell therapy is another promising avenue. By regenerating damaged retinal cells, this technology has the potential to restore vision in conditions currently deemed incurable.
Furthermore, bionic eyes and advanced prosthetics are also being developed to provide functional vision to those who have lost their sight.
The development of clinical trials and implementation of EU-approved therapies requires patient registries of data containing people’s relevant genetic information, so that suitable candidates can be quickly identified for further research or clinical treatment. Such registries can appear costly to build and maintain.
However, they have unrivalled benefits both to the ongoing pursuit of genetic architecture and natural history in Ireland and the facilitation of genetic counselling, so that everyone can be informed early of the likely outcome of their condition and its hereditary implications.
With this information, each person can make life choices in family planning and appropriate long-term career options, lessening uncertainty and anxiety in decision-making. This can improve the wellbeing of people living with conditions that are often accompanied by anxiety, depression, fear, stress, fatigue, and loneliness.
However, too many citizens are still waiting for a genetic diagnosis, and those that do have their genetic diagnosis are often left waiting for it to be processed, because Ireland has too few clinical genetics experts.
Ethically, and as a human right, society has a responsibility to support those affected by sight loss. This includes not only medical interventions but also fostering environments that are inclusive and supportive of visually-impaired individuals. Research into adaptive technologies, such as screen readers and navigation aids, has greatly enhanced the independence and quality of life of those living with vision impairments.
Whether it’s ground-breaking new treatments or innovative technologies, they all require substantial investment in research and development.
Public and private funding can accelerate the transition from laboratory research to clinical application, ensuring that these innovations reach those in need. But, in Ireland — which leads the world in this type of research — this work is largely dependent upon charitable donations.
The Irish public has been exceptionally generous towards finding a cure for inherited blindness over nearly four decades.
Thanks to that support, some €20m in funding for more than 100 research and clinical projects has progressed our understanding and raised hope, especially for the estimated 3,500 Irish citizens who live with inherited retinal degeneration.
Around 300 genes have so far been identified that are associated with genetic forms of retinal disease.
However, this accounts for just under 70% of cases.
For the remaining 30%, a disease-causing genetic variation has yet to be identified. As such, we are not seeking one cure, but many.
With a population the size of Galway, the vision-impaired community in Ireland relies on scientific research to unlock the cures that are waiting to be discovered. It provides an essential ingredient to life. One of hope.
As part of the Retina International World Congress being hosted by Fighting Blindness, a public engagement day will take place on Saturday, June 8, affording people with sight loss an opportunity to quiz the eye experts.
To register to attend, or to view the live stream, visit fightingblindness.ie
- Finbarr Roche is chief executive of Fighting Blindness
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