Annual Report 2019-2020

A young girl smiling and wearing sunglasses, while holding a white teddy bear. The bear has a red bow tied around its neck, and is wearing a white t-shirt featuring the Aniridia Day logo.

Read details of what our officials, members and supporters did and our finances between 1 April 2019 and 31 March 2020 in the Aniridia Network Annual Report for 2019/20.

The hightlights include:

Thanks to great efforts by everyone who helped with these achievements

However, we continue to struggle to do some basic things well and rely too much on a few very active volunteers. We badly need more people to help us achieve our goals. Please volunteer if you can.

The report will be received at the charity’s Annual General Meeting 2020

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Aniridia Network Online Conference 2020

Attendees at the 2019 Aniridia Network ConferenceThis year’s Aniridia Day is more important than ever. Given the absence of our usual conference, it’s been vital for us to find another way of connecting aniridia patients with one another, and with those who support them.

We are therefore delighted to announce a special online conference, providing an afternoon of free, informative presentations and discussions about aniridia. Anyone is welcome to attend from all over the world, especially patients with aniridia and their relatives in the UK and Ireland.

The conference will start at 2pm BST on Sunday 21 June. You must register your interest if you want to take part, so we can send you a link nearer the time. We’ll be using Zoom to run the event.

Aniridia Day logo

We’ve got some fantastic speakers lined up, plus there will be time to ask questions and chat with people also affected by the condition, as we all celebrate international Aniridia Day together.

The agenda includes:

  • Open discussion for all attendees
  • Dry Eye Disease and Aniridia – Colin Parsloe will talk about the causes and treatments for the gritty sore sensation many feel in their eyes.
  • “But you don’t look blind?” – Charles Bloch will talk about challenges and successes at university and finding jobs with aniridia.
  • Annual General Meeting 2020 of Aniridia NetworkReports, financial accounts, questions and comments.
  • Achievements with AniridiaSinead Kane will give a motivating talk about becoming a lawyer, multi-marathon athlete and world record holder with aniridia.
  • Success at Aniridia Centre – Dr Natella Sukhanova will show how she has created an effective centre of excellence at the Research Institute of Pediatrics in the Central Clinical Hospital of the Russian Academy of Science.
  • Open conversation for all attendees
  • Perhaps other sessions, to be confirmed.

So please register now to secure your place. Although we will try to record the sessions and publish them later, we cannot guarantee this. So we highly recommend that you join us live to ensure you don’t miss out. If you have any questions or problems signing up, contact us at info@aniridia.org.uk for help.

Please note that the event is also a substitute for the European Aniridia Conference in London, which has been delayed until summer 2021. More information on that will be provided at a later date.

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Join our trustee team in 2020/21

Trustee group posing

Trustees after the 2019 Annual General Meeting: Eleanor, Dave, Sarah, James, Kaite

Could you lead our charity to: ensure it runs properly and enjoys success?

We need all the help we can get. Don’t assume others will do it all or even as well as you could. We’re seeking new people to fill gaps on the Aniridia Network Trustee Board – how about you?

Trustees are the people who form our governing body. They are responsible for controlling the management and administration of the organisation. Trustees are volunteers and work together as a team, with collective responsibility for the charity.

Being a trustee is very rewarding but can be hard work too. It provides opportunities for personal development and improving employability. Trustees are not paid but are repaid out-of-pocket expenses.

Find out more about what is involved in being a trustee at Aniridia Network.

Sarah Matthews who was elected last year is no longer a trustee so we have a space on the board which has up to 5 posts. We would particularly value anyone with: financial, fundraising, volunteer management or business development skills. We would also be very keen to talk to you if you could also help in these areas without being a trustee.

Current trustee Katie Atkinson is also due to retire by rotation as our constitution requires. She will be standing to be reappointed.

Trustees for the coming year will be at voted in by our members at our next Annual General Meeting on 21 June 2020.

If you want to join the team, fill in the trustee nomination and declaration form and submit it to us by 22 May 2020.

If you have any questions, ask them in the comments below or email info@aniridia.org.uk.

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Get a call to ‘Ask the expert’ about aniridia

Woman wearing a white coats in a laboratory

Dr Mariya Moosajee

Six members got to speak with an expert who cares for lots of patients with aniridia and has a detailed knowledge of the field

A doctor who specialises in aniridia very generously offerred one-to-one calls with those affected by the condition, during the COVID-19 lockdown.

People with aniridia or their relatives, who are members of Aniridia Network, could request a 20-minute conversation with Dr Moosajee at Moorfields Eye Hospital to talk about the disease.

Dr Mariya Moosajee is a Consultant Ophthalmologist at Moorfields and Great Ormond Street Hospital for Children in London. She is also an Associate Professor leading a research group at UCL Institute of Ophthalmology and the Francis Crick Institute.

She specialises in genetic eye diseases and spends half of her normal working week, seeing patients in clinics with conditions such as aniridia. The rest of the time she researches its causes and is developing potential treatments, to hopefully benefit patients in future.

Mariya said:

Over this lockdown, I have continued my clinics at Moorfields but virtually, through video consultations and telephone calls. Being in contact with their specialist has provided my patients with a lot of comfort during this worrying time.

For the past couple of weeks, I felt I needed to do more to help people. Sadly, my intensive care skills are not up to scratch, although I may still be redeployed to the Nightingale Hospital. What I can offer is advice and guidance to patients with rare genetic eye diseases.

So I have reached out to Aniridia Network to offer a weekly “Ask the Expert” session exclusively to its members.

Every Thursday morning Mariya was more than happy to have one-to-one calls, to chat and answer any questions (or point people in the right direction) about the following:

  • aniridia
  • connecting with specialist services
  • accessing genetic testing
  • interpreting your genetic testing result
  • research and clinical trials that may be applicable

You did not have to be a current patient of Moorfields Eye Hospital or Great Ormond Street Hospital to request a call.

This was not a formal clinical consultation: Mariya didn’t take clinical notes or refer to previous patient notes. The conversation remained completely confidential. It was for a maximum of 20 minutes to allow her to speak to as many people as possible.

Mariya added:

I really hope you will find this helpful. It is a terrible time and we must support each other as much as we can. I look forward to speaking with you. Best wishes, stay safe and take care,

Aniridia Network is extremely grateful to Dr Moosajee for so kindly offering her time and expertise in this way to help people affected by aniridia.

Please let us know what you think of this initiative and what else we can do to help during the COVID-19 crisis.

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Insecurity and aniridia

Two things taught Fern about insecurity – being blind due to aniridia and online dating. Watch her amazing TEDx talk.

From denying her disability entirely to learning that she didn’t have to fully accept being blind to reveal it to others. Fern challenges the idea that total acceptance of oneself is necessary for others to accept us and explains that self-acceptance is not a moment of enlightenment, but a lifelong rollercoaster ride. Fern Lulham is a captivating, inspirational and vibrant motivational speaker. She speaks with honesty and passion, covering topics such as self-confidence, self-worth, the power of communication, working together and the importance of sharing our emotional experiences.

Fern has a unique, upbeat and entertaining style that resonates with all audiences. Talking from her own experience, Fern can reach out and touch every single person. She believes strongly in altering perspectives and encouraging value and belief in ourselves.

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Sleep and visual impairment health study

city skyline and sunsetParticipants are wanted for a study into the association between vision impairment and sleep, health, and wellbeing. The researchers are keen to identify the effects of different conditions including aniridia.

Many people with aniridia experience sleep issues which may be related to having hypoplasia, and other anomalies such as with the pineal and pituitary glands.

Sleep and biological daily (circadian) rhythms are essential to maintaining the healthy balance and functioning of the mind and body. Our master internal circadian clock coordinates our body’s daily physiological and behavioural cycles to the Earth’s solar day. This includes daytime alertness and sleep timing, to synchronization of changes in hormone secretion, to fluctuations in mood and cognitive ability.

The researchers are based in Oxford and want to hear from people with visual impairments from around the UK.

Find out more about the research and take the survey that forms its first part. Make sure you highlight that you have aniridia in your answers.

 

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2020 Annual General Meeting

Notice is hereby given that the Annual General Meeting (AGM) of Aniridia Network, a charitable incorporated organisation will be held online between 2pm and 4pm on 21 June 2020 to transact the business below in accordance with our governing document. It will be a session between online seminars as part of Aniridia Day.

Agenda

  1. Minutes of the Aniridia Network 2019 Annual General Meeting to be agreed. Watch the video of the 2019 AGM.
  2. Matters arising.
  3. Reports & Accounts 2019/20
    To receive and consider the accounts for the financial year ending 2020 and the report of the charity trustees
  4. Noting the deferment of retirement by rotation of a trustee – see below
  5. Any other business.

By order of the Trustee Board

Proposed resolutions were due to be received by post or email to the trustees by end of 22 May 2020.

Deferment of retirement by rotation of a trustee

The trustee board of Aniridia Network has decided to suspend the voting element of this year’s Annual General Meeting (AGM) due to COVID-19 and logistical difficulties. We had already given notice by email and website post, that the AGM would take place as a video conference because of social distancing requirements. This will still take place online.

Members may review the board’s annual report including financial accounts plus previous meeting minutes. They can raise questions or comments during meeting. As is customary these documents will be deemed accepted, subject to any reasonable objections.

As there were no new nominations, the only other agenda item to was to have been to  reappoint Katie Atkinson as a trustee. It was her turn to ‘retire’ under a rotation system, despite serving only 2 years of a normal 3 year term.

The trustees looked at the practicalities of holding an election by post and email. They concluded that a postal vote would be difficult to run efficiently, cheaply and fairly. They also considered the Charity Commission guidance on cancelling AGMs and the context of the currently 4 out of 5 filled trustee posts. As a compromise, the board decided to hold the meeting but waive the requirement for Katie to retire this year. This avoids a vote but still puts the team up for scrutiny.

We hope members will understand this choice, which was not made lightly. We welcome your questions or comments about it.

The board will strive to work on issues relating to voting members, with the goal of proposing one or more solutions to members next year.

Join the Trustee Board

Trustees are the volunteers who form our governing body. They work as a team and are collectively responsible for controlling the management and administration of the charity. Being a trustee can be hard work, but also be very rewarding and provide great opportunities for personal development and improving your employability.

Interested? Find out more about being and how to become a trustee.

Trustee nominations must be received by post or email to the trustees.

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Rare Disease Day 2020 Meetup

Rare Disease Day is always a very good opportunity to bring people together and raise further awareness of aniridia.

People around a bar table

To mark the occasion, trustee Eleanor Burke hosted an aniridia meetup at Wynn’s Hotel in Dublin on Saturday 29 February 2020, from 3pm-6pm.

Despite the very stormy wet weather there were a total of eight people 4 with aniridia. Jill came with her son Stephen, Marty came with his mum and Finton came too. .

Eleanor with Aniridia Day merchandise

Eleanor

The event was free and included a non-alcoholic welcome drink.

Anyone affected by aniridia was welcome to attend, including patients, parents, children and professionals. As proven by the most recent gatherings in Scotland & London, our meetups are a wonderful opportunity for people to share experiences, get supportive advice and make new friends, so please do join us!

If you would like to organise a meetup in your area, then you are more than welcome to do so, and indeed we encourage it. Email meetup@aniridia.org.uk to let us know when and where it will take place, and we’ll help you to promote it.

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Testing if drugs can improve cornea regeneration

KatieBy researcher Martin Collinson

Aniridia, caused by mutation in the so-called eye ‘master regulator gene’, PAX6, can impact on vision in several ways. In addition to the absence or near-absence of the iris, people with aniridia are at high risk of cataract (cloudy lenses) and glaucoma.

One of the most intractable problems however is the deterioration of the front surface of the eye, the cornea, which can occur over time, leading to inflammation, opacity and irritation. Conventionally, this corneal deterioration (‘aniridia-related keratopathy’ or ARK) is treated as a failure of the stem cells that maintain the corneal epithelial
surface, and transplant of stem cells can improve vision, at least for a while.

However, there is a lot more going on: the corneal surface of people with aniridia is typically more fragile than found in the general population. Not only is it more likely to suffer small recurrent abrasions, it is also slower at repairing wounds, and metabolically slightly less able to respond to environmental stress. Corneas have fantastic powers of regeneration, but this ‘triple-whammy’ means that over time, the corneas of people with aniridia do tend to deteriorate, and there is no cure.

Typically, people with aniridia have only one functional copy of the PAX6 gene in every cell, instead of the normal two. The other copy has picked up a mutation that stops it from producing a functional protein, and of course these mutant genes can run in families. The mutations mean that cells in people with aniridia are not producing as much PAX6 protein as the eye needs to develop normally.

Recently drugs such as Ataluren and others have been developed and trialled that can
‘rescue’ mutant cells and allow them to produce more normal levels of protein. They show great potential to improve the eye condition in aniridia, but will only ever work for the minority of people who have a particular type of mutation where a single DNA base change ‘stops’ the gene somewhere in the middle. Drugs such as Ataluren allow cells to ignore such mutations, but are not designed to help the majority of people with aniridia who have different mutations, such as for example, the whole gene being missing.

To address this, we are working with researchers such as Professor Daniel Aberdam at INSERM (Paris) and Tel Aviv University. They have screened for new safe drugs that for one reason or other, can increase PAX6 protein levels in human cells that carry aniridia-causing mutations. They found two drugs that in cell culture tests in vitro, can safely raise PAX6 levels in mutant corneal cells, rescue gene expression and help with wound healing. We believe these are very exciting as candidate cures for the corneal problems associated with aniridia.

Fight for Sight have funded us to test whether these drugs can fulfil their promise. The intention is to test them in mice that carry Pax6 mutations equivalent to those found in people, to see if they are a viable oral or topical (i.e. eyedrops) therapy for aniridia. The Pax6 mice are perfectly healthy and live normal ‘lab mouse’ lives, but show the iris, lens and corneal problems associated with human aniridia. They therefore have relatively poor eyesight, and the idea of the project is to test whether these drugs can improve their vision. If it works on mice, there is good reason to think it will work on people too. It is a twelve-month project and so we hope to be able to report results by the end of 2020.

It is not intended that the drugs will make the iris grow back or give everyone with aniridia perfect eyesight – that’s a battle for another day. However, we are very optimistic that we will be able to ameliorate the corneal problems that can be an important component of the vision loss associated with aniridia, and a persistent irritation to people affected.

While a cure for aniridia is probably a long way off, there is hope that significant improvement of vision will become routine in the medium term.

Man pointing at projection showing a large eye

Martin Collinson presenting

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Consultation on artificial iris implants guidance: have your say

Corridor of Moorfields Eye HospitalDraft guidance about using artificial iris implants in England is open for consultation.

This follows a review evidence on the efficacy and safety of artificial iris implants for people with aniridia.

The recommendation is that, for the moment, surgery to insert an artificial iris in patients with congenital aniridia should only be performed as part of research.

Do you agree?

Take part in the consultation and let us know your views so that we can represent patients.

What is happening?

The National Institute for Health and Care Excellence (NICE) recently published draft guidance for using artificial iris implants in aniridia patients. It was writen after gathering all available medical evidence and patient feedback, from individuals who have had the procedure and from patient organisations including Aniridia Network. A public consultation is now collecting opinions about the draft guidance.

The consultation will close at 5pm on Thursday 19th December.

The final version of the guidance is due to be published in March 2020.

What is NICE guidance?

The purpose of NICE guidance, is to provide information for doctors in England on the risks and usefulness of a treatment. The issuing of NICE guidance is not ‘a stamp of approval’ for any particular treatment. It is simply a review of the latest research and other evidence regarding how safe and effective the treatment is. This evidence is used to draw up recommendations for surgeons on how and when the treatment should be used.

The NHS is not obliged to follow the guidance but it is considered best clinical practice.

NICE was established in legislation as an England-only body. However, we have agreements with the devolved administrations so that Interventional Procedures guidance applies in Wales, Scotland and Northern Ireland.

What is an artificial iris implant?  

An artificial iris is a medical device which can be placed inside the eye. It is designed to reduce glare by preventing excess light from entering the eye. It is a ring similar to a natural iris, but unlike a natural iris it cannot change in size. It can be black or colours to mimic a natural iris.

It may give some improvement in visual acuity but cannot reverse low vision caused by conditions such a foveal hypoplasia or nystagmus which many people with aniridia have.

There are several models available from different manufacturers. Surgery is required to fit the implant in front of the eye’s lens. The exact surgical procedure depends on the model of artificial iris being used and the patient’s individual needs.

As with all surgery, there is some level of risk. Patients with aniridia often have other eye conditions such as glaucoma or clouding of the cornea (keratopathy) which can develop after, or be made worse by surgery.

For this reason fitting an artificial iris implant is often done alongside cataract surgery. Cataracts is when the eye’s natural lens becomes cloudy. In surgery it is removed, and usually replaced by an artificial lens. Add an iris implant to the to the artifical lens reduces the need for (and therefore the risks of) two separate surgeries.

What does the draft guidance say?

NICE has drafted two guidance documents,

  • one for congenital aniridia (aniridia which is present from birth)
  • one for acquired aniridia (where one or both irises have been damaged through injury).

After reviewing all the available evidence the NICE Interventional Procedure Advisory Committee recommended that:

  • for congenital aniridia, the artificial iris implant procedure should only be performed as part of formal research (as it has been up until now).
    This is because there is not yet enough evidence available on its safety and efficacy.
  • for acquired aniridia there is a little more evidence available and so the procedure can be performed but only with special arrangements. This means there is still some uncertainty about whether the procedure is safe or effective.

What does this mean for patients?

There is no change for patients with congenital aniridia in England.

Artificial iris implants have been used in a small number of cases in the UK as part of clinical research. This will continue.

Not all hospitals with an ophthalmology department will be able to offer artificial iris implants. Patients would need to ask their ophthalmologist for a referral to a specialist centre to get the treatment.

For patients with acquired aniridia, artificial iris implants may start to become available more locally over time.

The guidance gives patients considering artificial iris implants the chance to review the currently available evidence on the safety and effectiveness.

The feedback Aniridia Network has heard from medical experts is cautious; iris implants would not be recommended for most patients with congenital aniridia at the moment.

Artificial irses are definitely not a “cure” for aniridia. The main potential benefits could be a reduction in glare and hence the symptoms of photophobia, plus a more “normal” appearance to the eye if coloured implants are used.

The main risks are causing or making worse existing glaucoma and keratopathy, plus other complications which could arise during or after surgery (for example if the implant was to move out of place). These complications can cause further sight loss and may necessitate further surgery.

Where iris implants have been used in the UK so far, it has most commonly been done alongside a cataract operation. Surgery purely for fitting an iris implant may be considered not to have enough potential benefits to outweigh the potential risks.

Patients should bear in mind that this procedure is still considered experimental. Any decision should only be made after an in depth discussion with their ophthalmologist about their individual circumstances.

How can I find out more and give my views?

Read the draft guidance and submit your comments using these links:

We at Aniridia Network would also like to hear what our members think about this draft guidance so we can respond to the consultation in a way that represents the patient community as a whole. Tell us what you think by emailing: info@aniridia.org.uk.

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