Rare Disease Day: 28 February 2022

  • 27 Feb 2022
  • Barny Foot, Professor Jugnoo Rahi on behalf of the BOSU Steering Committee

Monday 28 February is Rare Disease Day, a day for raising awareness and generating change for the 300 million people worldwide living with a rare disease, their families and carers.

This year the British Ophthalmological Surveillance Unit will celebrate 25 years of rare disease surveillance so today seemed a good opportunity to recognise how this globally unique research unit has impacted the treatment and management of many rare eye conditions.

The BOSU has supported over 80 high impact studies of excellent quality that have broadened knowledge and understanding and brought benefit for patients across ophthalmic subspecialties and demographics. For example, the study investigating frequency and nature of harms due to NHS-initiated delays in diagnosis or treatment has provided the evidence base for campaigns and actions to increase the provision of ophthalmic care by a wide range of organisations and initiatives. Other studies have identified patients at high risk of adverse outcomes and modifiable risk factors, such as the study of endophthalmitis following vitrectomy and the study of acanthamoeba keratitis and contact lens wear, providing important quantitative information for patients that will help them make informed decisions when making treatment or lifestyle choices as well as directly informing the content of discussions for consent before undertaking surgery.

Other studies, such as those investigating Birdshot Retinopathy and Dysthyroid Optic Neuropathy have provided previously unavailable baseline epidemiological information to enable planning and securing funding for further research including trials of interventions and studies of treatment efficacy.

Then the British Childhood Visual Impairment and Blindness studies (BCVIS1 in 2000 and BCVIS2 in 2015), are the only national incidence studies for childhood blindness anywhere in the world, providing comprehensive information on frequency, causes, management and outcomes of all-cause visual disability and how these have changed over time, informing an understanding of the impact of new treatments and national screening programmes, the changing landscape of child health, and the considerable inequalities in visual health by ethnicity and social class.

Many of you will be familiar with the Yellow Card system, but as we head into our second 25 years the BOSU will be transferring to an all-inclusive digital system that will replace the yellow cards with monthly emails and allow reporting ophthalmologists to complete study questionnaires online.

The new BOSU Integrated Digital Reporting and Data Collection system will provide an even quicker, easier way for clinicians to safely report. It builds upon BOSU success by retaining active surveillance methods and adding the highest standards of information governance, and ophthalmologists in training will now be formally involved for the first time

We are confident that the new system will provide a number of benefits for all including:

  • An email based reporting system with a simple ‘one click’ response for ‘nothing to report’
  • Instant access to online questionnaires
  • New spontaneous ‘at your convenience’ case reporting
  • A clinician dashboard to view personal card returns, cases reported, and data forms completed

 So on behalf of the RCOphth, the BOSU committee and the study researchers, we would like to thank everyone who has returned their cards, reported cases and completed questionnaires. It has been a remarkable effort to sustain the high participation rates that have translated through to a strong publication record, with 85 highly cited peer-reviewed papers and something that can rightly be celebrated on rare disease day.

If you have any questions or comments, please do be in touch via Barny Foot, ([email protected]).