This article will discuss the value that optometrists might add to their patients who are diagnosed with an inherited retinal disease (IRD) but coming back to them for routine eye examinations, including discussions on nutrition, supplements and genetic counselling.  

Optometrist support

In all cases of inherited retinal dystrophy, the prognosis is uncertain and can appear to be very bleak. Education is key and optometrists are well placed to offer support and signpost their patients to the many charities, clinical support and ongoing research groups as well as offering eye care and low vision aids.
 

Case 1

Daniel had been diagnosed with retinitis pigmentosa (RP) during the summer vacation of his GCSE year. He had been hoping to pursue a career, post-A-levels, as a Royal Navy helicopter pilot. With his career trajectory now in question, Daniel took the news of his anticipated sight loss very hard. He began college to study his A-levels and decided to go ahead with learning to drive as his binocular visual field was good at the time of diagnosis. 

The emotional impact on Daniel, however, had a significant effect on his wellbeing. He stopped running with his club and became withdrawn. His diagnosis threw up lots of questions about his career options that he did not feel equipped to answer. Sadly, having an IRD would stop him from being a military helicopter pilot. After the first term at college, as planned, Daniel passed his driving test and was thrilled to have his freedom, but his friends did not trust him to drive them to college and he began to feel very singled out and isolated. 

When he came back to see me the following May, he was struggling at college and his mood was low. The ophthalmologist who had diagnosed his eye condition had told him that he would most likely lose his sight by the time he was 40 years old and that there was no treatment. As his sight was good at that time, he did not see an eye clinic liaison officer (ECLO) after diagnosis and was left to his own devices. With no close family or friends with any type of visual impairment, he did not feel understood at home either and did not want to make a ‘big deal’ of it.

His second sight test with me was an opportunity for us to have a conversation about positive steps he could take to improve his morale and make the best of the time he had with his sight and to put him in touch with national and local charities where his questions could be answered. We also talked about protecting his eyes from UV exposure with sunglasses, nutrition and diet, exercise and the counselling support he might get from the RNIB. 

Daniel did not like the thought of the RNIB because the word ‘blind’ did not apply to him. So, we agreed I would refer him to his GP once again to access support for his mental health. He was interested in speaking with RetinaUK also, a specific charity for the broad range of IRDs. Very positive in their approach, they organise lots of sporting activities for fundraising for research. Daniel was keen to get back to his running and was very receptive to the idea of doing something positive, such as running a 10k race to fundraise for charity. 

Daniel was also becoming more curious as to what type of RP he had. His friends had been asking him lots of questions which he initially found overwhelming; having not felt ready to explore his disease, he was now curious as to whether he could have some genetic testing done. With his 18th birthday coming up that September, he felt he was mature enough to explore more about genetics and whether having genetic tests would help him to predict how quickly his eyesight might change. 

Again, this is something that charities could support Daniel and his family through. They have dedicated teams who discuss the pros and cons of genetic testing and diagnosis with a genetic counsellor before testing is done. The nearest hospital for this on the South Coast was not far away.

Daniel’s Estermann visual fields were still good enough for driving and I sent him off, much more relaxed and buoyed up with some supportive information and web addresses so that he could begin to take back some agency. When I wrote to his doctor, I mentioned in my letter everything I had told Daniel and suggested that if Daniel wished to seek some genetic testing, that his GP would be best placed to refer him onward.

Case 2

Robyn had seen me for advice and onward referral for some local sight loss charity support to help them with working and living aids as well as some rehabilitation and mobility training. Running their own accountancy practice had seemed like the only way to cope with Usher syndrome and sight loss and they had begun to feel very isolated. My referral, after seeing Robyn had been for some rehabilitation support and workplace assessment for assistive technology. There was also a referral for sight impairment registration and ECLO support.

When Robyn returned to see me for their routine check-up they were doing very well. The sensory loss team had visited home and given Robyn some really useful tips to help around the home such as improving lighting and the rehabilitation worker had spent six weeks with them supporting with long cane training. Robyn had ventured out at night to meet friends in a quiet pub and was beginning to trust that they could be more independent and less housebound. 

The ophthalmologist had registered Robyn as severe sight impaired with much of the lower field missing and the ECLO at the hospital had helped Robyn to apply for Personal Independence Payment (PIP), which is a non-means-tested benefit. They were in receipt of an additional £250 per month, which really helped with affording additional lighting at home, a helpful handrail to their outside steps, taxis to and from the station, etc.

Robyn had been able to apply for a disabled railcard, blind person’s tax allowance and the Blue Badge scheme so that friends and relatives could take them to the theatre, appointments, exhibitions and park the car nearby. This made transit in unfamiliar places much easier for Robyn. They joked that they even had a 50% reduction on the TV licence and could take a companion to the theatre at reduced price too on their accessible scheme. 

The part they were most excited about was that the workplace assessment team had been out to visit in their office space and as a result, Robyn was now proficient in using Zoom Text, had a large print keyboard and a new touchscreen laptop linked to a second monitor. This had been installed with training given by the assistive technology team. The final steps for Robyn were to be put on the waiting list for a guide dog, but thanks to the long cane training, so many more opportunities were opening up to becoming more independent. 

The wait for a canine friend did not seem such a big deal anymore. In terms of eyesight, everything was stable and the new computer glasses we had prescribed the previous year were working very well still. It was great to see the change in confidence in Robyn who had even considered applying for a job in a larger organisation so that they felt less isolated during the day and feel less afraid of interacting in the outside world.

Discussion points

With both case studies, it is clear that more support was needed. As optometrists, often we can be the first port of call to answer questions and support our visually impaired patients to access everything they need to help them live fully and independently. There is a lot of fear after diagnosis, and professional psychological support may be needed. Patients often do not know what they need in terms of specific support because they do not understand what is available to them. 

Making suggestions, when the patient seems receptive is a good idea. Patients with IRD nearly always prefer to keep using their remaining useful vision for as long as possible. They adapt as the disease progresses, so offering assistance before they are ready does not always go down well.

Employment support and risk to current employment loom very large on the agenda for those in work with sight loss. Sadly, at the time of writing, only 25% of working age people with sight loss are actually in work – a figure that has not changed since a survey done in 1991.1 Many fear that they will never find a job let alone build a career and in a recent survey,1 40% fear they will lose their jobs with declining sight. 

Others feel that employers do not make allowances for visually impaired employees in their job adverts and role specifications, (eg drivers’ licence being required for jobs that do not require a car). However, there is a wealth of support to hand if they know where to access it and while there is a large gap between employers and their employees with sight loss, there is a great deal being done to improve outcomes for those with sensory impairments with Equality, Diversity and Inclusion (EDI) being very much on the workplace agenda.

The Equality Act 20102 is also important in terms of employment retention and working conditions. People with slowly progressive inherited sight loss have learned to adapt to their changing sight and have developed strategies to overcome their difficulties. They are, as a result, great problem solvers and are a huge asset to companies.

Equality Act

The Equality Act 20102 replaced the Disability Discrimination Act 1995, protecting people from being discriminated against over nine protected characteristics. Of these nine protected characteristics, disability is one and includes physical, sensory and mental disabilities. In relation to sight loss, those with a sight loss registration (CVI) are classified as disabled and are protected by law in employment, discrimination, education and interactions with the police. 

In brief, it stops employers preventing those with disability from applying for jobs, (unless a particular activity is necessary for the role). It also makes it illegal for an employer to terminate an employee’s contract based on their disability alone. Those in the workforce who are struggling with their sight, low vision or visual impairment, by law, should be able to speak to their employer in confidence and request ‘reasonable adjustments’ to enable them to do their work in the same manner as non-disabled colleagues, not disadvantaged by their disability. 

It also protects income/pay discrimination based on disability and opportunities for career progression. This may involve workstation assessments, rehabilitation, more frequent breaks, hybrid working, alternative forms of transport to and from work and personal evacuation plans, etc… Once an employer has been notified that there is a disability, steps are taken to ameliorate the issues at hand:

  1. Workplace assessment, either ‘in house’ by occupational health teams in larger organisations or privately with specialists in that field. Assessments look at optimising the working environment and minimising risk to the employee while assessing what available measures will be suitable and helpful in the workplace. This may include workstation relocation, new computers, new screen positioning, lighting control, etc, as well as a PEEP (Personalised Emergency Evacuation Plan) in case of emergency.
  2. Access to work3 application if necessary to give a grant towards purchasing assistive technology, for example. Some employees or employers are happy to purchase their own equipment. This involves either a face-to-face consultation or a telephone assessment with a trained assessor who then grants a ‘time limited’ application for funding towards purchasing assistive technology. Since the Covid pandemic, there is a huge demand for these services and a long waiting time. Retired, self-employed and employed people with disabilities can apply for access to work grants.
  3. Assistive technology set up and training - This includes setting up a service contract and in house training for the required assistive technology program, ie: ZoomText, Jaws Fusion, CCTV readers, so that maximum benefit can be attained. It takes time, but, once proficient, visually impaired screen workers are often a great deal faster than their sighted colleagues.
  4. Sight test - when the new equipment is in place, with all the relevant measurements to hand, the correct spectacles and tints can be prescribed as needed.

Figure 1: Genome sequencing courtesy of RetinaUK



After Diagnosis

  • Patients may be encouraged to be certified and registered as visually impaired. The optimal route is to then be seen by an ECLO for support and practical help. Optometrists and ECLOs are well placed to advise patients on the steps to take. The ECLO is the only person who is employed to support the patient with application and form filling for benefits. Stronger links are being forged between QTVIs (qualified teacher for visual impairment) and ECLOs to improve access to equipment for students and to flag areas of concern if the client is struggling. This is especially useful for children who may need additional support at school with a QTVI and access to support in higher education.
  • Regular eye examinations should be encouraged; RP can present with high prescriptions, especially astigmatism or corneal ectasia. As central vision is often retained until the latter stages of disease, making the best of the remaining useful sight is important. Ocular comorbidity risk, such as cystoid macula oedema, epiretinal membrane, cataracts and primary angle closure should be monitored for using imaging such as FAF and OCT. Keeping up to date with spectacles, tinted lenses, contact lenses, prismatic lenses or low vision aids ensures that the patient has the opportunity to make the most of their sight. It is also essential not to overlook screening for systemic and treatable diseases, such as glaucoma, cardiovascular disease and diabetes. If a patient in the early stages of retinal disease is driving, visual fields testing should be performed at least annually or more frequently if the patient reports a change in vision. Visual field loss is not noticed and often, it is not until a significant portion of field has been lost that the patient becomes aware of the deficit. Cases of cystoid macula oedema (CMO) should be referred urgently so that medical intervention can begin as early as possible. Carbonic anhydrase inhibitors such as oral Diamox are the first line of treatment for CMO related to RP, topical Dorzolamide, intravitreal Dexamethasone implants5 or intravitreal anti VEGF treatments such aflibercept (Eylea)4 or ranibizumab (Lucentis) are used sparingly as a last course of management where other treatments are not tolerated or fail. Managing expectations and risk is crucial to the life decisions patients make.
  • Non-visual aids such as computer assistive technology can be accessed privately or through a number of suppliers and it is always worth optometrists developing a good working relationship with this industry as they are best placed to recommend their patients to these services. Local support groups, online forums, charities and national organisations are valuable, as well as large national events which are held every year, such as ‘Sight Village’, where visually impaired clients can research all the latest innovations available to support them. There are Sight Loss Councils in many areas of the UK, which are run by people with sight loss and help support improvement in accessibility and services on a local level. Organisations such as the Thomas Pocklington Trust provide employability advice and often give access to young visually impaired people to seek internships.

Nutritional support and supplements

All patients with eye disease, without exception, are understandably keen to preserve the sight they have and will often ask about nutrition, cures and vitamin supplements. There is a lot of mis-information and mixed data in the press, which can be confusing. In general, vitamins that are good for heart and brain health are also good for eye health. However, there is one exception with Stargardt disease and that is that these patients should not be supplementing with additional vitamin A7 as it has been strongly linked to having an adverse effect. 

They should also limit consumption of foods with the highest levels of vitamin A, such as liver, eggs and fish. In general, as for all of your patients, advice on smoking cessation is essential, advising a good quality well balanced diet, full of colourful fruit and leafy greens. Patients should consider carefully the research behind claims of vitamin supplements halting the progression or reversing the disease progression as this simply is not the case. 

Many people with low vision are poor sleepers and there is some thought that this is due to poor light absorption in the damaged retina, although this is not proven. Melatonin is something that poor sleepers may ask about, and should seek medical advice from their GP as in the UK, melatonin is not available over the counter.

Genetic Testing

Genetic testing may not just be of concern to the person who has been diagnosed with an inherited retinal dystrophy; close family members may be keen to find out where the disease has come from and what its inheritance pattern is. Particularly when parents are planning a family, the inheritance pattern and understanding this is important for many couples. Often, the biggest question tends to revolve around how close scientists are to developing a ‘cure’. 

Genetic testing is becoming more widely offered, making a big difference in being able to collate data, looking at prevalence and targeting research. Since the discovery of the XLRP gene in 1984, there have been over 270 gene loci mutations identified for retinal diseases. In 2008, the first clinical trials data was published for those with RPE65 mutation. 

However, it was not until 2018 that the first human treatments began for Leber’s Congenital Amaurosis with Luxturna (Novartis), for which NICE guidelines have approved one subretinal injection.8  We are a long way still from curing retinal diseases, however, natural history studies and clinical trials all build a bigger picture of disease progression and the optimal treatment window for novel therapies.

Genetic testing is available via ophthalmology referral from a GP or optometrist. There are several major centres throughout the UK where blood samples are analysed and reports are sent back to patients, outlining the inheritance pattern and gene anomalies/spelling mistakes as well as the likelihood of the gene being expressed in future generations. Genetic reports take a long time to be processed, up to four months. Often, support is required to ‘debunk’ the jargon as they are very complicated and there are dedicated teams of medically trained genetic counsellors who can help with this process.

Seeking genetic testing is not without risk. The motives for finding out more may be pure curiosity, however, the wider impact needs to be considered once the results are received. In over 40% of cases, the specific genetic type cannot be labelled. Sporadic cases are being found all of the time and this leaves patients feeling disappointed and isolated. For others, it may impact whether they continue with having a family or even terminating a pregnancy. 

In the wider family, the psychosocial impact, with feelings of guilt or blame are considerable. Diagnosis with inherited retinal diseases has been shown in studies9 to impact on psychosocial adjustments such as identity, health-care, family and social relationships, career pathways, etc. The burden of knowledge can be as disempowering for some as it is empowering for others. Careful genetic counselling is now encouraged and further research in this area is ongoing.

Natural history studies are now taking place to systematically evaluate specific IRDs, with in depth evaluation from the earliest stages of disease following diagnosis. These involve repeat testing of functionality and electrical tests to give longitudinal studies year on year. Information gathered from these systematic studies is shared, with consent, with wider research teams to build the bigger picture; the combined data is then collated to refine confidence in expectations of visual prognosis after diagnosis while pinpointing the optimal treatment window for when treatment becomes available.

If asked about clinical trials and genetic testing, it is wise to refer patients for genetic counselling. Charities such as RetinaUK have dedicated support specifically designed for this.


Figure 2: Natural History study courtesy of RetinaUK


Latest News

In a recent article in Ocular Surgery News, reports suggest that a phase 2b RESTORE trial is now moving towards FDA approval for single dose intravitreal treatment for RP and Stargardt disease with a new ‘mutation-agnostic’ treatment with MCO-010.10 There are many gene therapy research trials under way currently, but with over 270 known mutations to treat, progress is slow. 

More information can be found on RetinaUK website who are a major supporter of inherited retinal disease clinical trials.

Resources and Support

There is a wide variety of support that you can signpost your patients to once they have a diagnosis, including psychological support as they come to terms with the changes in their life and the prognosis they are faced with. This can be privately paid for or accessed via GP referral or the RNIB.

This is not an exhaustive list, but an example of where support can be found:

RetinaUK – retinauk.org.uk inherited retinal disease and genetics support.

USHTrust – usher-syndrome.org

UsherKids – usherkidsuk.com

SENSE – sense.org.uk – support for deaf/blind and complex disabilities

DeafblindUK – deafblind.org.uk

Stargardt Disease – stargardtsconnected.org.uk

Fight for Sight – fightforsight.org.uk – sponsoring research and supporting sight loss community as a charity

Sight and Sound Technology – sightandsound.co.uk – assistive technology and screen readers/ magnifiers

Visualise Training and Consultancy – visualisetrainingand

consultancy.com

Access to Work – gov.uk/access-to-work

Sight advice FAQ – sightadvicefaq.org.uk

Thomas Pocklington Trust – pocklington.org.uk/education/

student-support-service for student and employment support

Unlock Genetics @RetinaUK – retinauk.org.uk/genetics

Gene Vision resources for rare eye diseases – gene.vision

British Association of Counselling and Psychotherapy – bacp.co.uk

With special thanks to RetinaUK for images supplied and collaboration. 

References and Bibliography:

  1. RNIB Employment Stats. https://www.rnib.org.uk/professionals/health-social-care-education-professionals/knowledge-and-research-hub/reports-and-insight/employment-facts-and-stats-2020 (Access 27/3/24)
  2. Equality Act 2010 https://www.gov.uk/rights-disabled-person/employment
  3. Access to Work – https://www.disabilityrightsuk.org/resources/access-work
  4. Moustafa GA, Moschos MM. Intravitreal aflibercept (Eylea) injection for cystoid macular edema secondary to retinitis pigmentosa – a first case report and short review of the literature. BMC Ophthalmol. 2015 Apr 30;15:44. doi: 10.1186/s12886-015-0033-z. PMID: 25925748; PMCID: PMC4482192. (Access 21/3/24)
  5. Veritti D, Sarao V, De Nadai K, Chizzolini M, Parmeggiani F, Perissin L, Lanzetta P. Dexamethasone Implant Produces Better Outcomes than Oral Acetazolamide in Patients with Cystoid Macular Edema Secondary to Retinitis Pigmentosa. J Ocul Pharmacol Ther. 2020 Apr;36(3):190-197. doi: 10.1089/jop.2018.0153. Epub 2019 Dec 30. PMID: 31886707. (Access 21/3/24)
  6. Huang CH, Yang CM, Yang CH, Hou YC, Chen TC. Leber’s Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations. Genes (Basel). 2021 Aug 19;12(8):1261. doi: 10.3390/genes12081261. PMID: 34440435; PMCID: PMC8392113. (Access 21/3/24)
  7. Sofi, F, Sodi, A, Franco, F, Murro, V, et al, Dietary profile of patients with Stargardt’s disease and Retinitis Pigmentosa: is there a role for a nutritional approach? BMC Ophthalmol 2016, 16, 13. (Access 21/3/24)
  8. Robert H Henderson, Inherited retinal dystrophies, Volume 30, Issue 1,2020, Pages 19-27, ISSN 1751-7222, https://doi.org/10.1016/j.paed.2019.10.004. (Access 22/2/24)
  9. Combs, R, McAllister, M, Payne, K et al. Understanding the impact of genetic testing for inherited retinal dystrophy. Eur J Hum Genet 21, 1209–1213 (2013). https://doi.org/10.1038/ejhg.2013.19 (Access 22/2/24)
  10. Nanoscope Therapeutics press release – https://nanostherapeutics.com/2023/03/30/nanoscope-therapeutics-announces-positive-topline-results-from-phase-2b-restore-trial-of-mco-010-for-the-treatment-of-retinitis-pigmentosa (access 28/3/34)