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Lighting a candle in the darkness

Now in its 18th year, the Fighting Blindness Retina 2017 conference took place in Dublin from 12-14 October and saw speakers gather in Dublin from countries across the globe, from the US and Canada, to Switzerland and Italy, to the UK and Ireland. With more than 400 delegates in attendance, the conference offered a key opportunity for researchers to develop collaborations and ignite the next generation of vision research.

Robotic surgery could revolutionise eye surgery

Among the high-profile speakers in attendance at RETINA 2017 was Prof Marc de Smet, Medical Director of Preceyes Medical Robotics in The Netherlands, and co-developer of a robotic system that has the potential to revolutionise eye surgery.

“Eye surgery demands a high level of skill and we have pretty much reached a limit as to what we can currently do unassisted. However, last year, we had a major breakthrough when we used robot-assisted surgery for the first time on the human eye. The key advantage is the high levels of precision for very delicate surgery and, where even the most highly-skilled surgeon can have micro tremors in his or her hands, our PRECEYES Surgical System is completely steady. The results, we have found, have been significantly fewer haemorrhages and less trauma and damage to the retina.

“We anticipate that procedures currently off-limits will now be feasible, such as facilitating the delivery of gene therapy to the retina. Our aim is to have a CE mark by the end of 2018, with equipment potentially available to general ophthalmic hospitals from 2019,” he told the meeting.

Dr Elise Heon, Ophthalmologist and the Mira Godard Chair in Vision Research, The Hospital for Sick Children, Toronto, Canada, addressed the meeting on retinal degeneration, its diagnosis and implications. She pointed out that there are many types of retinal degeneration and their prevalence is likely underappreciated. When diagnosing patients, family history is key, Dr Heon stressed, and while genetic testing has become standard, its interpretation has become increasingly complex.

She said that as numerous treatment approaches are being explored, it is important to better understand the individual patient’s needs at their particular stage of retinal degeneration and to set realistic expectations, with outcomes currently largely dependent on the staging of disease.

She told the Medical Independent (MI) that it is a “very exciting time” in the field.

“Inherited retinal diseases are actionable diseases… and now they are coming to the forefront. There are many different treatments and the world ophthalmic community is coming together to develop better standards and processes to ensure that every patient is assessed in the same way… ”

Age-related macular degeneration (AMD)

Prof Gregory S Hageman, University of Utah, US, spoke about the development of gene-directed therapeutics targeting AMD. He said increased understanding of AMD now supports the belief it is likely multiple, distinct biological diseases and is helping to predict progression, with therapeutic approaches now in development to target the earlier stages of the disease.

Another US speaker, Prof Dennis Clegg, University of California, also spoke about new treatments for AMD, specifically the development of stem-cell therapy.  Several groups have already initiated clinical trials for the treatment of dry AMD using stem cell-derived retinal pigment epithelium (RPE), the layer of tissue in the back of the eye that supports the function of rod and cone photoreceptors.

The California Project to Cure Blindness has commenced a phase 1/2 clinical trial of implanting tiny sheets of stem cell-derived RPE into AMD patients’ retinas. The hope is that the healthy RPE implant will rescue surviving photoreceptors, thus preserving vision.

“The eye has many of the answers for developing stem cell therapies,” Prof Clegg told the meeting, explaining that because of advanced surgical methods, it is possible to get into the retina easily and deliver a small amount of stem cells which can have an effective impact.

Clinical genetic services

During the conference, 
Fighting Blindness urged the Government to prioritise the funding of clinical genetic services, including clinical consultant geneticists and genetic counsellors, for the estimated 5,000 people with inherited retinal conditions in Ireland.

The call came against a backdrop of Ireland having among the lowest numbers of genetic staff per 100,000 population in Europe. As a result, current waiting lists for clinical genetic services in Ireland stretch up to 18 months and longer.

Fighting Blindness pointed out that the lack of investment in ophthalmology services is exemplified in latest figures from the National Treatment Purchase Fund (NTPF), which show that ophthalmology had the second-highest inpatient/day case waiting list, at 12,025 at the end of September, with one-in-five patients (21 per cent) waiting for more than a year. Ophthalmology outpatient waiting list numbers climbed 21 per cent from 31,4973 to 38,094 in the 12-month period to the end of September, with almost one-in-three (32 per cent) waiting for more than a year.

There are an estimated 225,000 people living with low vision and sight loss in Ireland, including approximately 13,000 blind people, said the organisation. These figures are projected to increase to 272,000 and 18,000 respectively by 2020.

Fighting Blindness CEO Mr Kevin Whelan said while huge advances are being made in developing new gene therapies for patients with inherited retinal disease, to benefit they need a precise genetic diagnosis and, most vital of all, access to genetic services.

“Current recommendations indicate a minimum of three consultant geneticists per million and one full-time genetic counsellor per 100,000 population. Based on population, the Republic of Ireland should have 14 consultant geneticists and 46 genetic counsellors. With just six clinical geneticists and 8.3 genetic counsellors working in the State, staffing levels are woefully inadequate for our needs.

“It is vital that we know the specific genes causing people’s sight loss, as there is tremendous progress being made in developing many promising gene-specific therapies that could dramatically change people’s vision loss situations. However, without a precise diagnosis of the underlying gene mutation, people with inherited retinal conditions will lose out.

Mr David Keegan, Consultant Ophthalmic Surgeon and member of the board of Fighting Blindness, highlighted how some patients are losing sight due to delays in accessing anti-VEGF treatments:
“We, at Fighting Blindness, are increasingly concerned about the reported delays in patients with AMD and other retinal disease accessing sight-saving injection treatment in our major centres in Ireland. In line with best practice, it is crucial that these patients receive treatment within a two-week period; however, a substantial number of patients are not meeting this time frame. For those patients whose injection treatments are delayed beyond three months, they are nearly 70 per cent more likely to have irreversible sight loss. Investment in the delivery of these services across the country is imperative and needs to start now. This is vital if we are to achieve the World Health Organisation Vision 2020 goal of eliminating the main causes of all preventable and treatable blindness by the year 2020.”

Speaking to MI at the conference, Mr Keegan called on the Government to fund the implementation of the recently-published but long-awaited Primary Eye Care Review Report, which would significantly ease pressure on hospital-based ophthalmic clinics and waiting lists.

Target 5000

Meanwhile, he also revealed that Target 5000, which aims to genotype and phenotype all individuals in Ireland with inherited retinal degeneration (IRD), now has over 1,500 patients recruited and more than 900 DNA samples sequenced. Candidate mutations have been identified in 60-to-65 per cent of samples, with new phenotypes identified for known IRD genes.

“It is one of the most exciting, collaborative all-Ireland projects running in ophthalmology,” Mr Keegan told MI.

Target 5000 now has an electronic database that is compatible with developing databases in Europe, “so we can have greater integration with European registries; the benefit of that will be access to clinical trials that are recruiting patients with very rare disease”.

“The genotyping [in Target 5000] has improved, so we are getting more positive results and we have opened up the pathway for clinically-accredited testing, which is now working and we have nearly 100 patients who have [been through that],” he said, adding, however, that the lack of genetic counselling services in Ireland is impacting the next steps for the project, though funding has been committed to appoint a genetic counsellor.

Patient voice

As part of the RETINA 2017 conference, a number of Fighting Blindness ambassadors made presentations on living with sight loss. One of these was Ms Sinead Kane, who earlier this year became the first vision-impaired athlete to complete the World Marathon Challenge — seven marathons on seven continents in seven days — and she spoke about not letting vision loss stop her achieving her athletic and academic goals, and creating her “own opportunities”.

“You can either choose to be disabled by your vision impairment or you can choose to go out and live some sort of a full life and challenge the status quo that ‘people with disabilities can’t do things’,” she told MI.

Prof Brendan Buckley, Fighting Blindness Chair, praised the “inspiring” contributions of patient speakers, including Ms Kane, at the meeting.

“It is very easy for scientific meetings to become abstract and introspective… It is crucial to hear from somebody living with the condition we are talking about, working on. Treating sight loss in mice [is not the aim], it is about people. Science is the vehicle through which we achieve improvement; it is not the end in itself… You either light a candle or you sit around cursing the darkness. Each of us are trying to light the candle in our different way,” he told MI.

Concluding, Prof Buckley said the meeting had highlighted some of the most exciting developments in treating sight loss and the need to get on with things, and “think better, think faster”, as progress is frustratingly slow for patients with sight loss. “There has been really rapid movement in gene therapy and a very important treatment is about to be approved by the US FDA. While that will be for a small segment of degenerative retinal disease, it is a very important step.”

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