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Background: Through an Irish Health Service Executive (HSE) initiative to tackle excessive hospital outpatient waiting times, 996 patients referred to the Ophthalmology Outpatient Department (OPD) of the Mater Misericordiae University Hospital (MMUH), Eccles Street, Dublin 7, Ireland, were outsourced to a community medical eye clinic (CMEC) for consultation with specialist-registered ophthalmologists.Aims: The study aims to determine if patients referred as routine to the OPD department could be managed in a community setting.Methods: 996 patients were reviewed in the CMEC, and their data was collected and placed into a spreadsheet for analysis.Results: 61.2% of patients referred to the OPD were fully managed in the community clinic, and 34.9% required ophthalmic surgery in hospital.Conclusions: By facilitating direct listing of some of the surgical patients to the hospital theatre list, 89.8% of the 996 referrals received treatment without needing to attend the hospital outpatients department. [ABSTRACT FROM AUTHOR]

Aim To evaluate the outcomes of the type-I and type-II Boston keratoprostheses in a single Irish centre. Methods A retrospective chart review of keratoprosthesis implantations carried out in our institution from November 2002 to March 2014 was performed. All procedures were performed by a single surgeon (WP). Results Thirty-four keratoprosthesis implantations were carried out in 31 patients with a mean follow-up of 42 ±31 months (range 2-110 months). Seventeen patients were female (54.8%) and 14 were male (45.2%). The majority of keratoprostheses implanted were type-I (31/34, 91.2%), and three were type-II (3/34, 8.8%). Twenty-nine patients (85.3%) had an improvement in distance best-corrected visual acuity (BCVA) from baseline. Fifty per cent (17/34) of patients had a best-ever BCVA of at least 6/12. Eighteen patients (64.3%) retained a BCVA of at least 6/60 at 1 year. Over the course of follow-up, six keratoprostheses were explanted from six eyes of five patients, one of which was a type-II keratoprosthesis. Twenty-six patients (76.5%) developed postoperative complications. Complications included retroprosthetic membrane (18 patients, 52.9%), an exacerbation or new diagnosis of glaucoma (6 patients, 17.6%), endophthalmitis (5 patients, 14.7%) and retinal detachment (2 patients, 5.9%). Conclusions These data demonstrate excellent visual acuity and retention outcomes in a cohort with a long follow-up period in a single centre. Complications remain a considerable source of morbidity. These outcomes provide further evidence for the long-term stability of type-I and type-II Boston keratoprostheses in the management of patients in whom a traditional graft is likely to fail. [ABSTRACT FROM AUTHOR]

Over 15% of probands in a large cohort of more than 1500 inherited retinal degeneration patients present with a clinical diagnosis of Stargardt disease (STGD1), a recessive form of macular dystrophy caused by biallelic variants in the ABCA4 gene. Participants were clinically examined and underwent either target capture sequencing of the exons and some pathogenic intronic regions of ABCA4, sequencing of the entire ABCA4 gene or whole genome sequencing. ABCA4 c.4539 + 2028C > T, p.[= ,Arg1514Leufs*36] is a pathogenic deep intronic variant that results in a retina-specific 345-nucleotide pseudoexon inclusion. Through analysis of the Irish STGD1 cohort, 25 individuals across 18 pedigrees harbour ABCA4 c.4539 + 2028C > T and another pathogenic variant. This includes, to the best of our knowledge, the only two homozygous patients identified to date. This provides important evidence of variant pathogenicity for this deep intronic variant, highlighting the value of homozygotes for variant interpretation. 15 other heterozygous incidents of this variant in patients have been reported globally, indicating significant enrichment in the Irish population. We provide detailed genetic and clinical characterization of these patients, illustrating that ABCA4 c.4539 + 2028C > T is a variant of mild to intermediate severity. These results have important implications for unresolved STGD1 patients globally with approximately 10% of the population in some western countries claiming Irish heritage. This study exemplifies that detection and characterization of founder variants is a diagnostic imperative., (© 2023. The Author(s).)

Background: Clinical trials are often considered the gold standard in cancer care. However, patients face barriers in trial participation including distances to cancer centres and personal costs including changing employment status, cost of medications, inpatient admissions, and parking tariffs., Aim: Our aim was to compare the distances patients travelled for clinical trials compared to those receiving standard systemic anticancer therapy (SACT). We also investigated the additional costs associated with this., Methods: This was a retrospective review of electronic patient medical records. The distance from the patients' home address to Beaumont was calculated as a one-way journey in kilometres. Patients attending for clinical trials were compared to those receiving standard of care SACT., Results: A total of 271 patients receiving standard SACT over a 5-day period and 111 patients enrolled on 24 clinical trials were included. The median one-way distance travelled by patients enrolled in clinical trials was 41.4 km, compared to 14 km in those patients' receiving standard of care SACT. The median estimated cost was €13 vs €4.20 for those enrolled on clinical trials compared to those receiving standard of care treatment, respectively., Conclusion: Patients enrolled on clinical trials often travel more than twice as far to receive their anti-cancer treatment compared to those receiving standard of care SACT and incur an increased cost of travel expenses., (© 2022. The Author(s).)

Objective: To define the characteristics of solitary idiopathic choroiditis (SIC) in a consecutive series of patients and propose a nomenclature change to idiopathic scleroma., Materials and Methods: Electronic patient records were retrospectively interrogated to identify all patients diagnosed with SIC between 2002 and 2019 in a tertiary referral ophthalmic hospital in the United Kingdom., Results: Thirty-four eyes of 34 patients were found to have SIC. The mean age at diagnosis was 48 years (range 24-78) and 23 patients (68%) were female. All lesions were located posterior to the equator, most frequently in the inferotemporal quadrant (13 eyes, 38%). The lesions had a mean largest basal diameter of 1.2 ± 0.4 disc diameters (range 0.5-2) and their distance to the optic disc had a mean of 1.2 ± 0.9 disc diameters (range 0-3.3). All lesions were intrascleral on enhanced depth imaging optical coherence tomography, demonstrating a hypo-reflective zone within the sclera, with an underlying hyper-reflective zone in some cases. No lesion enlarged or developed features consistent with active inflammation after a median follow-up time of 0.9 years (range 0-16.8)., Discussion/conclusion: Optical coherence tomography shows SIC to be an intrascleral lesion. Furthermore, we found no evidence of any inflammatory component. A nomenclature change to idiopathic scleroma is appropriate to prevent unnecessary investigation., Competing Interests: The authors declare no disclosures or conflicts of interest., (Copyright © 2020 by S. Karger AG, Basel.)

Inherited retinopathies affect approximately two and a half million people globally, yet the majority of affected patients lack clear genetic diagnoses given the diverse range of genes and mutations implicated in these conditions. We present results from a next-generation sequencing study of a large inherited retinal disease patient population, with the goal of providing clear and actionable genetic diagnoses. Targeted sequencing was performed on 539 individuals from 309 inherited retinal disease pedigrees. Causative mutations were identified in the majority (57%, 176/309) of pedigrees. We report the association of many previously unreported variants with retinal disease, as well as new disease phenotypes associated with known genes, including the first association of the SLC24A1 gene with retinitis pigmentosa. Population statistics reporting the genes most commonly implicated in retinal disease in the cohort are presented, as are some diagnostic conundrums that can arise during such studies. Inherited retinal diseases represent an exemplar group of disorders for the application of panel-based next-generation sequencing as an effective tool for detection of causative mutations.

Background: The GNAT1 gene encodes the α subunit of the rod transducin protein, a key element in the rod phototransduction cascade. Variants in GNAT1 have been implicated in stationary night-blindness in the past, but unlike other proteins in the same pathway, it has not previously been implicated in retinitis pigmentosa., Methods: A panel of 182 retinopathy-associated genes was sequenced to locate disease-causing mutations in patients with inherited retinopathies., Results: Sequencing revealed a novel homozygous truncating mutation in the GNAT1 gene in a patient with significant pigmentary disturbance and constriction of visual fields, a presentation consistent with retinitis pigmentosa. This is the first report of a patient homozygous for a complete loss-of-function GNAT1 mutation. The clinical data from this patient provide definitive evidence of retinitis pigmentosa with late onset in addition to the lifelong night-blindness that would be expected from a lack of transducin function., Conclusion: These data suggest that some truncating GNAT1 variants can indeed cause a recessive, mild, late-onset retinal degeneration in human beings rather than just stationary night-blindness as reported previously, with notable similarities to the phenotype of the Gnat1 knockout mouse., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/)

Objectives: Preoperative methicillin-resistant Staphylococcus aureus (MRSA) carriage is associated with higher rates of postoperative MRSA infection. Carriage can be eradicated but this requires delaying surgery, which presents a dilemma when the surgery is urgent. We analysed the incidence of preoperative MRSA carriage and the impact on postoperative outcomes in a cardiac surgery population., Patients and Methods: Patient data were collected prospectively from 2000 to 2007 (n=3789). MRSA screening is performed at a preadmission clinic for elective patients and on admission to the hospital for all patients. Three groups of MRSA carriers were identified: patients who were identified as carriers at a preadmission clinic (n=22, group 1), patients whose admission screening was positive but where the result was received postoperatively (n=103, group 2) and patients who acquired an MRSA infection or colonisation more than 48 h after admission (n=60, group 3)., Results: MRSA eradication measures prior to admission were successful in 21 of 22 in group 1 (95.4%). There were no MRSA infections in group 1. However, in group 2 there were 11 patients with an MRSA infection (10%) even though eradication measures were started on confirmation of carriage. In group 3, 19 of the 60 patients had an MRSA infection. The intensive care stay and mortality were significantly greater in groups 2 and 3 than in group 1 or compared with the overall patient population. However, groups 2 and 3 also had a significantly higher risk profile (European System for Cardiac Operative Risk Evaluation (EuroSCORE)). When matched with similar risk patients, patients in groups 2 and 3 had mortality outcomes that were consistent with matched risk patients., Conclusion: Patients who were MRSA carriers were older, more likely to have been on haemodialysis and to have been admitted from another hospital and underwent more complex surgical procedures. Carriage of MRSA was associated with a very high rate of MRSA infection, particularly among patients with diabetes. This suggests that delaying surgery may be warranted in patients expected to require implantation of prosthetic material such as valves, especially with diabetes. However, the survival outcomes for MRSA carriers are determined by their EuroSCORE rather than their MRSA status. This suggests that urgent cardiac surgery should not be delayed in patients with MRSA carriage., (Copyright © 2010 European Association for Cardio-Thoracic Surgery. Published by Elsevier B.V. All rights reserved.)