Purpose: To investigate the genetic characteristics of patients with non-syndromic retinitis pigmentosa (RP) analyzed at a single institution. Methods: We conducted a retrospective analysis of 63 patients clinically diagnosed with non-syndromic RP who underwent genetic testing. The clinical features of patients exhibiting the most common mutations, EYS and USH2A, were further assessed through routine ophthalmic examinations. Results: Of the 63 patients, 22 (34.9%) exhibited significant mutations. Notably, EYS and USH2A mutations were each found in 5 patients (7.9%); RP1 mutations were found in 4 patients (6.3%). The average ages at diagnosis were 38.8 years for EYS mutations and 41.8 years for USH2A mutations. The average best-corrected visual acuities were logMAR 0.08 for EYS mutations and logMAR 0.51 for USH2A mutations. Both mutation types showed a decrease in the normal macular area in fundus photographs with increasing age. In USH2A mutations, optical coherence tomography revealed a more pronounced reduction in central macular thickness and central foveal ellipsoid length compared with EYS mutations. Visual field tests indicated a reduction within the central 10° in 40% of EYS mutations and 60% of USH2A mutations. Electroretinography showed non-detectable responses in 2 individuals with EYS mutations and 4 individuals with USH2A mutations (40% and 80%, respectively). Conclusions EYS and USH2A mutations represented 45% of the genetically identified cases; affected patients typically were diagnosed in their 40s. EYS mutations tended to preserve retinal function and central foveal structure better than USH2A mutations.

Purpose: To investigate the clinical efficacy of rebamipide eyedrops in patients with meibomian gland dysfunction (MGD) associated with Sjögren’s syndrome. Methods: The study included 50 patients with Sjögren’s syndrome accompanied by MGD treated with 0.05% (w/v) cyclosporine and 0.15% (w/v) sodium hyaluronate eyedrops. They were divided into two groups: 25 who added rebamipide eyedrops to their existing treatments and a control group of 25 whose treatments did not change. We evaluated the tear breakup time, the Schirmer test and conjunctival staining scores, meibomian gland quality and function, and eyelid margin irregularity before prescribing rebamipide eyedrops and 1 and 3 months after prescription. Additionally, before eyedrops use and 3 months later, meibographic scores were assessed via imaging of the meibomian gland and ocular surface disease index values also were assessed. Results: The rebamipide group exhibited significant improvements in the tear breakup time, conjunctival staining score, and ocular surface disease index compared to before treatment (all p < 0.05). However, the Schirmer test result, meibomian gland quality and function, and eyelid margin irregularity did not differ between either groups before or after treatment. After 3 months of eyedrop use, the rebamipide group exhibited a significantly higher tear breakup time (p < 0.01) and Schirmer test score (p < 0.01) than the control group (p = 0.01), and significantly lower ocular surface disease index and conjunctival staining scores (p < 0.01). Conclusions Addition of rebamipide eyedrops to the conventional treatment of patients with Sjögren’s syndrome accompanied by MGD effectively improves dry eye symptoms and the ocular surface parameters.

Purpose: To evaluate the characteristics, anatomical success rate, and factors that may affect the anatomical success of rhegmatogenous retinal detachment in patients in their 20s. Methods: We retrospectively analyzed the medical records of patients aged 20-29 years who underwent surgery for rhegmatogenous retinal detachment from January 2018 to December 2022. We examined factors such as sex, age, duration of illness, preoperative best corrected visual acuity, presence of underlying diseases, proliferative vitreoretinopathy, lattice degeneration, macular involvement, extent of retinal detachment at diagnosis, axial length, and myopia level to explore their impact on surgical outcomes. Results: The study included 122 eyes. The mean age was 23.81 ± 2.82 years, and the average sphere power was -5.80 ± 3.71 diopters (D). The percentage of eyes with a refraction of ≤ -6.0 D came to 44.3% (54/122), and with ≤ -4.0 D it amounted to 72.1% (88/122). The average logarithm of the minimum angle of resolution (logMAR) best corrected visual acuity improved significantly from 0.52 ± 0.68 before surgery to 0.28 ± 0.45 after surgery. The primary surgical success rates were 92.0% for scleral buckling, 88.9% for vitrectomy, and 92.3% for combined scleral buckling and vitrectomy, with no significant factors related to anatomical success identified. Conclusions There was a high prevalence of moderate to severe myopia among patients in their 20s with rhegmatogenous retinal detachment. However, no statistically significant correlation was found between the degree of myopia and anatomical success. Both functional and anatomical outcomes were generally favorable in these patients.

Background and Objectives: Several real-world studies have been done in patients with nonvalvular atrial fibrillation (NVAF); however, information on its safety profile in patients with renal impairment is limited. XARENAL, a real-world study, aimed to prospectively investigate the safety profile of rivaroxaban in patients with NVAF with renal impairment (creatinine clearance [CrCl], 15–49 mL/min). Methods: XARENAL is an observational single-arm cohort study in renal impairment NVAF patients. Patients were followed up approximately every 3 months for 1 year or until 30 days following early discontinuation. The primary endpoint was major bleeding events. All adverse events, symptomatic thromboembolic events, treatment duration, and renal function change from baseline were the secondary endpoints. Results: XARENAL included 888 patients from 29 study sites. Overall, 713 (80.3%) had moderate renal impairment (CrCl, 30–49 mL/min), and 175 (19.7%) had severe renal impairment (CrCl, 15–29 mL/min) with a mean estimated glomerular filtration rate (eGFR) of 45.2±13.0 mL/min/1.73 m 2 . The mean risk scores were 3.3±1.4 and 1.7±0.9 for CHA 2 DS 2 -VASc score and HAS-BLED score, respectively. An incidence proportion of 5.6% (6.2 events per 100 patient-years) developed major bleeding; however, fatal bleeding occurred in 0.5% (0.5 events per 100 patient-years). The mean change in the eGFR was 2.22±26.47 mL/min/1.73 m 2 per year. Conclusions XARENAL observed no meaningful differences in major bleeding events from other previous findings as well as renal function changes in rivaroxaban-treated NVAF patients with renal impairment, which is considered to be acceptable in clinical practice.

Background and Objectives: The Korean Organ Transplant Registry (KOTRY) provided data for this third official report on adult heart transplantation (HT), including information from 709 recipients. Methods: Data from HTs performed at seven major centers in Korea between March 2014 and December 2020 were analyzed, focusing on immunosuppression, acute rejection, cardiac allograft vasculopathy (CAV), post-transplant survival, and mechanical circulatory support (MCS) usage. Results: The median ages of the recipients and donors were 56.0 and 43.0 years, respectively.Cardiomyopathy and ischemic heart disease were the most common preceding conditions for HT. A significant portion of patients underwent HT at waiting list status 1 and 0. In the multivariate analysis, a predicted heart mass mismatch was associated with a higher risk of 1-year mortality. Patients over 70 years old had a significantly increased risk of 6-year mortality. The risk of CAV was higher for male donors and donors older than 45 years. Acute rejection was more likely in patients with panel reactive antibody levels above 80%, while statin use was associated with a reduced risk. The employment of left ventricular assist device as a bridge to transplantation increased from 2.17% to 22.4%. Pre-transplant extra-corporeal membrane oxygenation was associated with worse post-transplant survival. Conclusions In this third KOTRY report, we analyzed changes in the characteristics of adult HT recipients and donors and their impact on post-transplant outcomes. The most notable discovery was the increased use of MCS before HT and their impact on post-transplant outcomes.

Radiofrequency ablation (RFA) is a minimally invasive treatment modality used as an alternative to surgery in patients with benign thyroid nodules, recurrent thyroid cancers (RTCs), and primary thyroid microcarcinomas. The Korean Society of Thyroid Radiology (KSThR) initially developed recommendations for the optimal use of RFA for thyroid tumors in 2009 and revised them in 2012 and 2017. As new meaningful evidence has accumulated since 2017 and in response to a growing global interest in the use of RFA for treating malignant thyroid lesions, the task force committee members of the KSThR decided to update the guidelines on the use of RFA for the management of RTCs based on a comprehensive analysis of current literature and expert consensus.

Background and Objectives: Several real-world studies have been done in patients with nonvalvular atrial fibrillation (NVAF); however, information on its safety profile in patients with renal impairment is limited. XARENAL, a real-world study, aimed to prospectively investigate the safety profile of rivaroxaban in patients with NVAF with renal impairment (creatinine clearance [CrCl], 15–49 mL/min). Methods: XARENAL is an observational single-arm cohort study in renal impairment NVAF patients. Patients were followed up approximately every 3 months for 1 year or until 30 days following early discontinuation. The primary endpoint was major bleeding events. All adverse events, symptomatic thromboembolic events, treatment duration, and renal function change from baseline were the secondary endpoints. Results: XARENAL included 888 patients from 29 study sites. Overall, 713 (80.3%) had moderate renal impairment (CrCl, 30–49 mL/min), and 175 (19.7%) had severe renal impairment (CrCl, 15–29 mL/min) with a mean estimated glomerular filtration rate (eGFR) of 45.2±13.0 mL/min/1.73 m 2 . The mean risk scores were 3.3±1.4 and 1.7±0.9 for CHA 2 DS 2 -VASc score and HAS-BLED score, respectively. An incidence proportion of 5.6% (6.2 events per 100 patient-years) developed major bleeding; however, fatal bleeding occurred in 0.5% (0.5 events per 100 patient-years). The mean change in the eGFR was 2.22±26.47 mL/min/1.73 m 2 per year. Conclusions XARENAL observed no meaningful differences in major bleeding events from other previous findings as well as renal function changes in rivaroxaban-treated NVAF patients with renal impairment, which is considered to be acceptable in clinical practice.

Background and Objectives: The Korean Organ Transplant Registry (KOTRY) provided data for this third official report on adult heart transplantation (HT), including information from 709 recipients. Methods: Data from HTs performed at seven major centers in Korea between March 2014 and December 2020 were analyzed, focusing on immunosuppression, acute rejection, cardiac allograft vasculopathy (CAV), post-transplant survival, and mechanical circulatory support (MCS) usage. Results: The median ages of the recipients and donors were 56.0 and 43.0 years, respectively.Cardiomyopathy and ischemic heart disease were the most common preceding conditions for HT. A significant portion of patients underwent HT at waiting list status 1 and 0. In the multivariate analysis, a predicted heart mass mismatch was associated with a higher risk of 1-year mortality. Patients over 70 years old had a significantly increased risk of 6-year mortality. The risk of CAV was higher for male donors and donors older than 45 years. Acute rejection was more likely in patients with panel reactive antibody levels above 80%, while statin use was associated with a reduced risk. The employment of left ventricular assist device as a bridge to transplantation increased from 2.17% to 22.4%. Pre-transplant extra-corporeal membrane oxygenation was associated with worse post-transplant survival. Conclusions In this third KOTRY report, we analyzed changes in the characteristics of adult HT recipients and donors and their impact on post-transplant outcomes. The most notable discovery was the increased use of MCS before HT and their impact on post-transplant outcomes.

Background: Rare cases of Kawasaki disease (KD) and multisystem inflammatory syndrome in children (MIS-C) have been reported following the coronavirus disease 2019 (COVID-19) vaccination; however, the association between COVID-19 vaccination and the risk of developing KD/MIS-C has not yet been established. Methods: We conducted a self-controlled case series analysis using a large-linked database that connects the COVID-19 immunization registry with nationwide claims data. We identified individuals aged < 18 years who received their initial COVID-19 vaccination and had a KD/MIS-C diagnosis with a prescription for intravenous immunoglobulin or corticosteroids between October 18, 2021, and April 15, 2023. The observation period was set as 240 days from the date of the COVID-19 vaccination. The risk window was 60 days after vaccination, with the remaining observation period serving as the control window. The incidence rate ratios (IRRs) and 95% confidence intervals (CIs) in the risk versus control windows were estimated using the conditional Poisson regression model. We further analyzed the vaccine doses and types for secondary analysis. We also performed subgroup analyses stratified by sex, age, comorbidities, and other conditions and sensitivity analyses by varying the length of the risk window and outcome definition. Results: Among 2,369,490 individuals who received the COVID-19 vaccination, 12 cases of KD/MIS-C were identified, which included five and seven patients in the risk and control windows, respectively. There was no increased risk of KD/MIS-C within the 60-day period of vaccination (IRR, 0.53; 95% CI, 0.17–1.60). Secondary subgroup and sensitivity analyses showed no significant increase in the risk of KD/MIS-C after COVID-19 vaccination, which is consistent with the results of the main analysis. Conclusion The results of this nationwide study suggest that the risk of developing KD/MIS-C did not increase after COVID-19 vaccination. However, owing to the lack of a sufficient number of cases, future studies utilizing multinational long-term follow-up databases should be conducted. Considering the increasing incidence of KD/MIS-C and the limited understanding of its precise biological mechanisms, additional research on KD/MIS-C is warranted.

Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is a neurodegenerative disorder caused by a biallelic expansion of pentanucleotide repeats in the RFC1 gene. Previous studies have reported up to 22% of patients with late-onset ataxia harbor this pathogenic repeat expansion. Despite its relatively high prevalence, CANVAS is often underdiagnosed because the disease is not well recognized and genetic testing is not performed in clinical practice. Here, we present a patient with characteristic clinical features, confirmed by genetic testing.