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Purpose To determine the genetic background of sector retinitis pigmentosa (RP) natural history to better inform patient counseling. Design Retrospective case series. Methods Review of clinical notes, retinal imaging including color fundus photography (CFP), fundus autofluorescence (FAF), optical coherence tomography (OCT), electrophysiological assessment (ERG), and molecular genetic testing were performed in patients with sector RP from a single tertiary referral center. Main outcomes measured were demographic data, signs and symptoms, visual acuity, molecular genetics; and ERG, FAF, and OCT findings. Results Twenty-six molecularly confirmed patients from 23 different families were identified harboring likely disease-causing variants in 9 genes. The modes of inheritance were autosomal recessive (AR, n=6: USH1C , n=2; MYO7A , n=2; CDH3 , n=1; EYS , n=1), X-linked (XL, n=4: PRPS1 , n=1; RPGR , n=3), and autosomal dominant (AD, n=16: IMPDH1 , n=3; RP1 , n=3; RHO , n=10), with a mean age of disease onset of 38.5, 30.5, and 39.0 years old, respectively. Five of these genes have not previously been reported to cause sector RP ( PRPS1 , MYO7A , EYS , IMPDH1 , and RP1). Inferior and nasal predilection was common across the different genotypes, and patients tended to maintain good central vision. Progression on serial FAF was observed in RPGR , MYO7A , CDH23 , EYS , IMPDH1 , RP1 , and RHO -associated sector RP. Conclusions The genotypic spectrum of the disease is broader than previously reported. The longitudinal data provided will help to make accurate patient prognoses and counseling as well as inform patients' potential participation in the increasing numbers of trials of novel therapeutics and access to future treatments.

Objective To investigate the retinal changes in choroideremia (CHM) patients to determine correlations between age, structure and function. Subjects/Methods Twenty-six eyes from 13 male CHM patients were included in this prospective longitudinal study. Participants were divided into <50-year (n = 8) and ≥50-year (n = 5) old groups. Patients were seen at baseline, 6-month, and 1-year visits. Optical coherence tomography (OCT), OCT angiography, and fundus autofluorescence were performed to measure central foveal (CFT) and subfoveal choroidal thickness (SCT), as well as areas of preserved choriocapillaris (CC), ellipsoid zone (EZ), and autofluorescence (PAF). Patients also underwent functional investigations including visual acuity (VA), contrast sensitivity (CS), colour testing, microperimetry, dark adaptometry, and handheld electroretinogram (ERG). Vision-related quality-of-life was assessed by using the NEI-VFQ-25 questionnaire. Results Over the 1-year follow-up period, progressive loss was detected in SCT, EZ, CC, PAF, and CFT. Those ≥50-years exhibited more structural and functional defects with SCT, EZ, CC, and PAF showing strong correlation with patient age (rho ≤ −0.47, p ≤ 0.02). CS and VA did not change over the year, but CS was significantly correlated with age (rho = −0.63, p = 0.001). Delayed to unmeasurable dark adaptation, decreased colour discrimination and no detectable ERG activity were observed in all patients. Minimal functional deterioration was observed over one year with a general trend of slower progression in the ≥50-years group. Conclusions Quantitative structural parameters including SCT, CC, EZ, and PAF are most useful for disease monitoring in CHM. Extended follow-up studies are required to determine longitudinal functional changes.

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Background:We describe an investigation of temporal trends in the incidence of childhood uveitisrelated hospital admissions, hospitalization being a robust indicator of disease severity. Methods: A population-based retrospective study using a hospitalization database, the Hospital Episode Statistics (HES) dataset, capturing data on care between 2013 and 2020. Primary outcomes were rates of pediatric hospital admissions for uveitis-related disorders. Results: During the study period, there were 3,258 reported uveitis-related hospital admissions of children aged 0 to 14 years, comprising 19% of all-age uveitis-related admissions. Anterior uveitis was the most common diagnosis. The annual incidence of childhood uveitis-related hospitalizations declined year on year from a peak incidence of 5.4 per 100,000 children (95% confidence interval 5.0-5.9) in 2015-2016 to 3.3 per 100,000 (95% CI 3.0-3.6) in 2019-2020. Over the same period, the national incidence of juvenile arthropathy-related admissions stayed stable. Conclusion:The decline in admissions nationally may reflect reduced incidence of uveitis complications with increasing use of immunosuppressive therapies.

Duodenal neuroendocrine neoplasms (dNENs) are rare neoplasms but their incidence is on the rise. They are classified into 5 sub-types but there remains much heterogeneity in behaviour in particular of non-functioning dNENs. To retrospectively analyse outcomes for all types of dNENs, and highlight prognostic factors associated with worse outcome. 102 (57 m/45f.) patients were identified with mean age at diagnosis 62 (range 32–87) years. The majority were non-functioning tumours 87/102 and median size was 10 mm (range 0.9–130 mm). 83 patients had Stage I or II disease, of which 17 underwent endoscopic resection with R1 rate of 45% and complication rate 12%. 36 patients were kept under endoscopic surveillance. There were 11 deaths of which 4 were disease related. Age and Ki67 > 20% were associated with worse OS in all dNENs. In non-functioning dNENs Ki67 > 3% was a predictor of lymph nodes metastases with OR 18.2 (2.54–13) (p < 0.005) in univariate analyses and liver metastases with OR 6.79 (1.56–29.5) (p < 0.05) in the multivariate analysis. Lesions 11–20 mm in size had OR 11.1 (1.16–106) compared to lesions < 11 mm for the prediction of lymph node metastases in the multivariate analysis (p < 0.05). ROC analysis of size of non-functioning dNENs to predict LN metastases found < 15 mm had an AUROC of 0.9 (0.81–0.99) with a sensitivity of 85% and specificity of 88%. dNENs are increasing in incidence, however low grade and smaller lesions have an indolent course and the role of endoscopic resection and active surveillance needs to be reviewed.

Background:Inguinal hernia surgery is the most common performed surgery all over the world. Among them laparoscopic totally extra-peritoneal (TEP) mesh repair fulfils all the requirements with better clinical outcomes than other procedures. Methods: Data was collected from the inpatient and out-patient records of 60 patients who underwent laparoscopic TEP for unilateral or bilateral inguinal hernia in a single unit in the Department of General Surgery during May 2012-June 2019 including the two years of follow-up. 3D mesh was used for application and was fixed with tackers. Then patients were followed up in outpatient department after 1 week, 2 week, and 3 months, 6 months and yearly up to two years. In every visit post-operative pain (assessed by visual analogue scale), local wound complication (hematoma, seroma, wound infection) and recurrence were noted. The data was collected and evaluated and the results shown. Results: All patients were men, with average age of 36.5 years (range 32-58). On categorization 53 (88.3%) of them had unilateral inguinal hernia and 7 (11.6%) of them had bilateral inguinal hernia. Intra operatively 12 (20%) of them had direct inguinal hernia and 48 (80%) of them had indirect inguinal hernia. Haematoma was seen in 1 patients, surgical emphysema in 3, seroma in 5 and recurrence in 2 patients. Conclusions: Laparoscopic TEP mesh repair was effective and safe tool for hernia repair, in terms of lesser postoperative painless number of hospital days, early recovery and lesser wound complications. However recurrence rates are comparable with other methods of hernia repair.