LASER PROPHYLAXIS IN STICKLER SYNDROME: The Manchester Protocol.

PURPOSE: Patients with Stickler syndrome are at high risk of giant retinal tears (GRTs) and detachments. Vitreoretinal interventions can reduce this risk, but there is presently no consensus about the optimal prophylactic approach. The aim of our study was to determine whether 360° laser prophylaxis is a safe and effective procedure to prevent GRT detachments in patients with Stickler syndrome. METHODS: Study subjects were recruited retrospectively through the databases of the vitreoretinal and ophthalmic genetic tertiary services in Manchester, United Kingdom. Clinical data were collected including on prophylactic intervention, the occurrence of retinal detachment, and the presence/type of retinal breaks. RESULTS: One hundred thirteen eyes from 63 patients with Stickler syndrome were studied; 72.6% (82/113) of these eyes received 360° laser prophylaxis. Of these, 9% had a retinal detachment, but no GRTs occurred. Among the 27.4% (31/113) of eyes that had no prophylactic treatment, 23% suffered a retinal detachment and 42.9% of these were associated with a GRT. CONCLUSION: Patients who underwent laser prophylaxis had fewer retinal detachments and no GRTs during an average of 6.1 years of follow-up (median 5 years), suggesting that this is a safe and effective approach for individuals with Stickler syndrome.

Patients with paroxysmal nocturnal hemoglobinuria demonstrate a prothrombotic clotting phenotype which is improved by complement inhibition with eculizumab.

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hematological disorder, characterized by complement-mediated intravascular hemolysis and thrombosis. The increased incidence of PNH-driven thrombosis is still poorly understood, but unlike other thrombotic disorders, is thought to largely occur through complement-mediated mechanisms. Treatment with a C5 inhibitor, eculizumab, has been shown to significantly reduce the number of thromboembolic events in these patients. Based on previously described links between changes in fibrin clot structure and thrombosis in other disorders, our aim was to investigate clot structure as a possible mechanism of thrombosis in patients with PNH and the anti-thrombotic effects of eculizumab treatment on clot structure. Clot structure, fibrinogen levels and thrombin generation were examined in plasma samples from 82 patients from the National PNH Service in Leeds, UK. Untreated PNH patients were found to have increased levels of fibrinogen and thrombin generation, with subsequent prothrombotic changes in clot structure. No link was found between increasing disease severity and fibrinogen levels, thrombin generation, clot formation or structure. However, eculizumab treated patients showed decreased fibrinogen levels, thrombin generation and clot density, with increasing time spent on treatment augmenting these antithrombotic effects. These data suggest that PNH patients have a prothrombotic clot phenotype due to increased fibrinogen levels and thrombin generation, and that the antithrombotic effects of eculizumab are, in-part, due to reductions in fibrinogen and thrombin generation with downstream effects on clot structure.

Contextualising and challenging under-representation in research in light of Cultural Trauma: a qualitative focus group and interview study.

BACKGROUND: Although underserved populations- including those from ethnic minority communities and those living in poverty-have worse health and poorer healthcare experiences, most primary care research does not fairly reflect these groups. Patient and public involvement (PPI) is usually embedded within research studies in the United Kingdom (UK), but often fails to represent underserved populations. This study worked with patient and public contributors and local community leaders, situated in a socio-economically deprived and ethnically diverse urban area, to explore under-representation in primary healthcare research. METHODS: We undertook a focus group with a purposive sample of 6 members of a Patient and Public Involvement Group (PPIG), and interviews with 4 community leaders (representing Black, South Asian, Roma and socio-economically deprived communities). An iterative analysis process based on template analysis was used. Focus group 1 was rapidly analysed, and a template created. Findings were presented in focus group 2, and the template further developed. The Cultural Trauma concept was than applied to the template to give a wider theoretical lens. In-depth analysis of focus groups and interviews was then performed based on the template. RESULTS: Wider societal and historical influences have degraded trust in academic and healthcare institutions within underserved populations. Along with more practical considerations, trust underpins personal motivations to engage with research. Researchers need to invest time and resources in prolonged, mutually beneficial engagement with communities of importance to their research, including sharing power and influence over research priorities. Researcher reflexivity regarding differential power and cultural competencies are crucial. Utilising participatory methodologies including co-production demonstrates a commitment to inclusive study design. CONCLUSIONS: Re-framing evidence-based medicine to be more useful and relevant to underserved populations with the highest burden of ill health is urgently needed. Lack of representation in primary healthcare research reflects wider societal inequalities, to which Cultural Trauma provides a useful lens. However, there are actions that researchers can take to widen representation. This will ultimately help achieve the goal of increased health equity by enhancing scientific rigour and research generalizability.

THE PROBLEM: People living in poverty, and people from ethnic minority communities may be referred to as 'underserved'. Underserved communities benefit less from health services, and along with other factors, this leads to health inequalities. Primary care research does not include enough people from these communities. This makes the health inequalities  worse. WHAT WE DID: This study looks at why people from underserved communities are not included in research. It also looks at what might help. We had focus group discussions with members of a Patient and Public Involvement Group (PPIG). These are individuals who do not have research expertise, but use their lived experience as patients to influence the research process. This group was formed in 2017, from areas where more people live with social disadvantage. We also interviewed local community leaders. Interviews and focus groups ask open questions, so are a good way to explore what people think about an issue. We found a useful theory about how cultural history affects what people can do. We used this to help us to understand how our findings could improve and widen participation in research within underserved communities. WHAT WE FOUND: We found that trust is very important. There needs to be trust between people and organisations. There are also practical reasons people from underserved communities might not be able to get involved in research. Researchers need to be aware of these things, and work with people from these communities throughout all stages of research. Long term relationships need to develop between institutions and people doing research. Understanding each other's culture and history makes it easier to work together.

Influences on ethnic minority women's experiences and access to contraception in the UK: a systematic qualitative evidence synthesis.

BACKGROUND: Accessible contraception is critical for promoting the health and well-being of women and their families. In the UK, contraception is free at the point of access, but only 55% of pregnancies are planned, with negative implications for maternal and infant outcomes. In general, women from ethnic minorities use contraceptives less than white women. Barriers to the uptake of contraceptives have been identified, including perceived poor information from healthcare professionals and concerns about side effects. However, most studies do not include representative proportions of women from ethnic minorities. Evidence suggests that ethnic minority (EM) women feel targeted and coerced by healthcare professionals regarding contraception. METHODS: A systematic search of Medline, Embase, and PsycINFO via Ovid, CINAHL, and Web of Science was conducted to identify primary qualitative and mixed-methods studies exploring ethnic minority women's experience of contraception in the UK. The data were charted using thematic analysis, using both summary and synthesis. RESULTS AND CONCLUSIONS: 16 studies met the inclusion criteria, including the perspectives of 717 participants from an ethnic minority. Four overarching themes were developed: contraceptive knowledge, beliefs, family, and services. Similar to women in general, ethnic minority women have concerns about side effects, especially infertility, value the perspectives of their peers and male partners, and express a preference for female healthcare professionals. Novel perspectives included conflicting ideas about the influence of religion and stereotyping of ethnic minority women. Culturally competent consultations and a better understanding of hormonal hesitancy are essential.

Subretinal silicone oil: OCT imaging findings and surgical management of a rare and unusual iatrogenic complication of retinal detachment surgery.

A man in his 50s underwent vitrectomy surgery for a macular off retinal detachment which was complicated by intraoperative hypotony and suprachoroidal haemorrhage, resulting in the use of silicone oil tamponade. Postoperatively, several retained cysts of fluid were seen underneath the retina, one of which was large and close to the macular. Imaging was used to determine that this was likely retained silicone oil. Given the potential of migration to the macular and retinal toxicity, the decision was made to remove the larger oil bubbles under the retina. We explain how the oil may have got under the retina in this unusual case, how we dealt with it and discuss other cases of different substances under the retina and their appearance on ocular imaging.

Understanding barriers to using long-acting reversible contraceptives (LARCs) in primary care: a qualitative evidence synthesis.

BACKGROUND: Long-acting reversible contraceptives (LARCs) are highly effective. In primary care, LARCs are prescribed less frequently than user-dependent contraceptives despite higher efficacy rates. Unplanned pregnancies are rising in the UK, and LARCs may have a role in reducing these through and redressing inequitable contraceptive access. To provide contraceptive services that offer maximal choice and patient benefit, we must understand what contraception users and healthcare professionals (HCPs) think about LARCs and uncover barriers to their use. METHODS: A systematic search using CINAHL, MEDLINE via Ovid, PsycINFO, Web of Science and EMBASE identified research about LARC use for pregnancy prevention in primary care. The approach adhered to the 'Preferred Reporting Items for Systematic Reviews and Meta-Analyses' methodology, critically appraised the literature, and used NVivo software to organise data and perform thematic analysis to determine key themes. RESULTS: Sixteen studies met our inclusion criteria. Three themes were identified: (1) trustworthiness (where and from whom participants obtained information regarding LARCs), (2) control (whether LARCs detract from personal autonomy) and (3) systems (how HCPs influenced LARC access). Misgivings about LARCs frequently arose from social networks and fears of surrendering control over fertility were prominent. HCPs perceived access issues and lack of familiarity or training as the main barriers to prescribing LARCs. CONCLUSIONS: Primary care plays a key role in improving access to LARC but barriers need to be addressed especially those involving misconception and misinformation. Access to LARC removal services are key to empower choice and prevent coercion. Facilitating trust within patient-centred contraceptive consult is essential.

The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis.

Non-traumatic ectopia lentis can be isolated or herald an underlying multisystemic disorder. Technological advances have revolutionized genetic testing for many ophthalmic disorders, and this study aims to provide insights into the clinical utility of genetic analysis in paediatric ectopia lentis. Children that underwent lens extraction for ectopia lentis between 2013 and 2017 were identified, and gene panel testing findings and surgical outcomes were collected. Overall, 10/11 cases received a probable molecular diagnosis. Genetic variants were identified in four genes: FBN1 (associated with Marfan syndrome and cardiovascular complications; n = 6), ADAMTSL4 (associated with non-syndromic ectopia lentis; n = 2), LTBP2 (n = 1) and ASPH (n = 1). Parents appeared unaffected in 6/11 cases; the initial presentation of all six of these children was to an ophthalmologist, and only 2/6 had FBN1 variants. Notably, 4/11 cases required surgery before the age of 4 years, and only one of these children carried an FBN1 variant. In summary, in this retrospective cohort study, panel-based genetic testing pointed to a molecular diagnosis in >90% of paediatric ectopia lentis cases requiring surgery. In a subset of study participants, genetic analysis revealed changes in genes that have not been linked to extraocular manifestations and highlighted that extensive systemic investigations were not required in these individuals. We propose the introduction of genetic testing early in the diagnostic pathway in children with ectopia lentis.

Technique of Xen Implant Revision Surgery and the Surgical Outcomes: A Retrospective Interventional Case Series.

PURPOSE: The Xen® Gel Stent (Allergan, Irvine, CA, USA) is a minimally invasive glaucoma surgery device implanted to reduce intra-ocular pressure (IOP) in glaucoma. The stents can fail to drain post-operatively due to scarring of the conjunctiva around the stent opening. Data on the success rates of revision surgery in patients with Xen stent failure are scarce. We present the first detailed report of the steps, outcomes and complications of Xen revision surgery with 12 months of follow-up data. METHODS: We share our experiences on the circumstances in which to perform Xen revision surgery, the steps of the surgery and the results of a retrospective interventional case series of all Xen revisions performed at a single centre from 2013 to 2018. RESULTS: A total of 151 Xen implants were inserted into eyes at our tertiary centre during the study period, of which 21 eyes (patients) underwent revision surgery. Mean pre-operative IOP was 26.1 (standard deviation 8.3) mmHg with the patient on two drops of anti-glaucoma medication. Four patients were excluded from the analysis due to incomplete data (medical records were unavailable for 2 patients; 1 patient died shortly after surgery; and 1 patient moved to another area). A non-functioning Xen implant was identified in another patient during revision surgery, and the procedure was converted to a trabeculectomy. The remaining 16 patients were included in the analysis, all of whom had a minimum follow-up of 12 months, with the longest follow-up being 4 years following revision surgery. Of these 16 patients, four required needling and 5-fluorouracil injection in the first 12 months following revision surgery, three required further glaucoma drainage surgery due to the failure of the revision surgery to control IOP in the first year and one suffered bleb-related endophthalmitis at the site of previous trabeculectomy surgery. Mean IOP at 12 months following revision surgery was 16.3 (standard deviation 3.7) mmHg on 0.7 drops of anti-glaucoma medication, which equates to a 37.5% reduction in IOP and a 65% reduction in the amount of IOP-lowering drops required. CONCLUSION: Our study shares experience on when to perform Xen revision surgery and the steps required. The results of our small cohort are the first in the literature and show that revisions can achieve promising IOP and medication reductions. Some patients still require needling in the post-operative period to optimise outcomes.

Visual and anatomical outcomes of central serous chorioretinopathy patients presenting to a tertiary unit: a prospective analysis.

AIM: The aim of this study was to prospectively define the characteristics and outcomes of a cohort of central serous chorioretinopathy patients using optical coherence tomography imaging to determine anatomical disease resolution. Much of the literature available on the characteristics of central serous chorioretinopathy patients pre date the advent of OCT imaging, with conclusive epidemiological evidence being scarce. We describe a cohort of patients presenting to a large centre over the course of a year. METHODS: Prospective data collection was undertaken for all patients diagnosed with central serous chorioretinopathy at our unit over the course of 1 year. All patients underwent thorough history taking and optical coherence tomography imaging. RESULTS: In total, 59 eyes from 51 patients were diagnosed with central serous chorioretinopathy between April 2017 and April 2018; 23 (45.1%) patients had optical coherence tomography evidence of complete anatomical resolution within a year, with three (5.88%) patients suffering a worse visual acuity compared with that at presentation at 1-year end point; and three patients developed secondary choroidal neovascular membranes. CONCLUSION: Our study reports much-needed prospective outcomes of patients with central serous chorioretinopathy, which helps to guide clinicians when deciding treatment strategies, as well as better informing patients of their prognosis for visual improvement.

Adult conjunctivitis secondary to dual infection with Chlamydia trachomatis and Neisseria gonorrhoeae - A case report.

PURPOSE: Although Chlamydia trachomatis and Neisseria gonorrhoeae are the commonest sexually transmitted infections in England, reports of ocular co-infection in the literature are limited. We report such a case which responded well to treatment, and discuss the literature and evidence currently available with regards to management of these cases. OBSERVATIONS: The patient is a 48-year-old bisexual gentleman who presented to the eye clinic of a UK hospital with redness, discharge and blurred vision in his left eye for one week. Initially he had mucopurulent discharge but his cornea was clear. He did not comply with prescribed treatment and returned two days later with bilateral symptoms and corneal thinning in his left eye peripherally.PCR tests for Chlamydia trachomatis and Neisseria gonorrhoeae were positive and the patient was commenced on intravenous ceftriaxone, oral and topical levofloxacin eye drops. After 48 hours of inpatient treatment the patient showed clinical improvement. CONCLUSIONS AND IMPORTANCE: Ophthalmologists should be aware of the possibility that Chlamydia trachomatis and Neisseria gonorrhoeae can cause co-infection in adult conjunctivitis, and of the straightforward method of treatment for such individuals. Delayed diagnosis and treatment of affected patients can lead to corneal complications and potential blindness. It is advisable to discuss these cases with the local microbiology service wherever possible, and referral to a sexual health service is imperative.

Ophthalmology research in the UK's National Health Service: the structure and performance of the NIHR's Ophthalmology research portfolio.

PURPOSE: To report on the composition and performance of the portfolio of Ophthalmology research studies in the United Kingdom's National Institute for Health Research (NIHR) Clinical Research Network (UK CRN). METHODS: Ophthalmology studies open to recruitment between 1 April 2010 and 31 March 2018 were classified by: sub-specialty, participant age, gender of Chief Investigator, involvement of genetic investigations, commercial/ non-commercial, interventional/observational design. Frequency distributions for each covariate and temporal variation in recruitment to time and target were analysed. RESULTS: Over 8 years, 137,377 participants were recruited (average of 15,457 participants/year; range: 5485-32,573) with growth by year in proportion of commercial studies and hospital participation in England (76% in 2017/18). Fourteen percent of studies had a genetic component and most studies (82%) included only adults. The majority of studies (41%) enrolled patients with retinal diseases, followed by glaucoma (17%), anterior segment and cataract (13%), and ocular inflammation (6%). Overall, 68% of non-commercial studies and 55% of commercial studies recruited within the anticipated time set by the study and also recruited to or exceeded the target number of participants. CONCLUSIONS: High levels of clinical research activity, growth and improved performance have been observed in Ophthalmology in UK over the past 8 years. Some sub-specialties that carry substantial morbidity and a very high burden on NHS services are underrepresented and deserve more patient-centred research. Yet the NIHR and its CRN Ophthalmology National Specialty Group has enabled key steps in achieving the goal of embedding research into every day clinical care.

An assessment of a modern touch-screen tablet computer with reference to core physical characteristics necessary for clinical vision testing.

There are a multitude of applications using modern tablet computers for vision testing that are accessible to ophthalmology patients. While these may be of potential future benefit, they are often unsupported by scientific assessment. This report investigates the pertinent physical characteristics behind one of the most common highest specification tablet computers with regard to its capacity for vision testing. We demonstrate through plotting of a gamma curve that it is feasible to produce a precise programmable range of central luminance levels on the device, even with varying background luminance levels. It may not be possible to display very low levels of contrast, but carefully using the gamma curve information allows a reasonable range of contrast sensitivity to be tested. When the screen is first powered on, it may require up to 15 min for the luminance values to stabilize. Finally, luminance of objects varies towards the edge of the screen and when viewed at an angle. However, the resulting effective contrast of objects is less variable. Details of our assessments are important to developers, users and prescribers of tablet clinical vision tests. Without awareness of such findings, these tests may never reach satisfactory levels of clinical validity and reliability.