Explore the vast range of titles available.

PurposeTo determine age- and sex-specific incidence and possible etiologies of pediatric and adult Horner syndrome in South Korea.MethodsA nationwide, population-based, cohort study using data from the Korean National Health Claims database from 2007 to 2018. All patients with Horner syndrome from the entire Korean population (n = 51,629,512) were included. To find possible causes of Horner syndrome, we searched concurrent codes for systemic diseases, trauma, or surgical procedures.ResultsA total of 139 pediatric patients (59.7% male) and 1331 adults (51.0% male) were newly diagnosed as having Horner syndrome. The cumulative incidence was 2.12 (95% CI 2.08–2.17) per 100,000 pediatric population and 2.95 (2.94–2.96) per 100,000 adults. The peak incidence occurred at 0–4 years of age in the pediatric population, and at 50–54 years in the adult population. A total of 835 (56.8%) patients had underlying conditions or related surgical procedures associated with Horner syndrome. The underlying causes were recognized in 695 (83.2%) patients before the diagnosis of Horner syndrome, in 75 (9.0%) patients at the same time as the Horner syndrome diagnosis, and in 65 (7.8%) patients after the diagnosis of Horner syndrome. There were four cases of Horner syndrome that preceded neuroblastoma diagnosis. The most common tumor related with Horner syndrome was that of the thyroid in the adult population.ConclusionsThis study determined the estimated incidence and possible causes of pediatric and adult Horner syndrome. As Horner syndrome with unknown etiologies may harbor serious malignancy, extensive evaluations are required, especially in children.

Although several studies have reported about the relationship between the surgical correction of intermittent exotropia and myopic progression, it remains unclear, unlike the relationship between esotropia and hyperopia. Thus, this retrospective case control study evaluated the impact of bilateral lateral rectus recession in intermittent exotropia on myopic progression. This study included 388 patients with intermittent exotropia. The refractive errors and degree of exodeviation at each follow up period were analyzed. The rate of myopic progression was −0.46 ± 0.62 diopter (D)/year in patients who underwent surgery and −0.58 ± 0.78 D/year in patients who did not, with no significant difference between them ( p  = 0.254). Patients who had recurrences of more than 10 prism diopters were compared with patients who did not have. The rate of myopic progression was −0.57 ± 0.72 D/year in the recurrent group and −0.44 ± 0.61 D/year in the non-recurrent group, with no significant difference between them ( p  = 0.237). Patients with fast myopic progression had more recurrence than patients with slow progression ( p  = 0.042). Moreover, recurrence had a positive correlation with fast myopic progression (OR = 2.537, p  = 0.021). Conclusively, the surgical correction of intermittent exotropia did not influence myopic progression.

PurposeTo describe characteristics of recurrent intermittent exotropia after bilateral lateral rectus (BLR) recession, and identify factors associated with poor outcome after unilateral medial rectus (MR) resection for recurrent intermittent exotropia.MethodsWe retrospectively reviewed 124 patients who have undergone unilateral MR resection for recurrent intermittent exotropia after BLR recession. Patients were followed for at least 2 years after MR resection. Clinical characteristics and risk factors associated with poor outcome after unilateral MR resection were evaluated. Successful outcome was defined as distant deviation within the range of 4 prism diopters (PD) esotropia and 10 PD exotropia at last visit after MR resection.ResultsAmong 124 patients, 50 patients (41.1%) were male, and the mean age at the time of MR resection was 9.5 ± 3.1 years. The average follow-up period after MR resection was 43.8 ± 23.7 months. Forty-seven patients (37.9%) were classified to have poor outcome at last visit, and 29 patients (23.4%) underwent third operation. None of the patients was overcorrected after MR resection. Multiple logistic regression analyses showed that distant deviation at post-operative 3 months and male gender were associated with poor outcome (OR 1.49; 95% CI 1.27–1.73; P < 0.001, and OR 5.19; 95% CI 1.42–18.98; P = 0.013, respectively).ConclusionOcular deviation at 3 months after unilateral MR resection for recurrent intermittent exotropia may play a valuable role in anticipating poor outcome. Patients whose exotropia exceeded 9 PD at distance at 3 months’ follow-up tended to recur while those whose exotropia remained below 9 PD at distance showed a stable disease course.

Mobile element insertions (MEIs) typically exceed the read lengths of short-read sequencing technologies and are therefore frequently missed. Recently, a founder Alu insertion in exon 4 of RP1 has been detected in Japanese patients with macular dystrophy by PCR and gel electrophoresis. We aimed to develop a grep search program for the detection of the Alu insertion in exon 4 of RP1 using unprocessed short reads. Among 494 unrelated Korean patients with inherited eye diseases, 273 patients with specific retinal phenotypes who were previously genotyped by targeted panel or whole exome sequencing were selected. Five probands had a single heterozygous truncating RP1 variant, and one of their unaffected parents also carry this variant. To find a hidden genetic variant, whole genome sequencing was performed in two patients, and it revealed Alu Y c.4052_4053ins328/p.(Tyr1352Alafs*9) insertion in RP1 exon 4. This Alu Y insertion was additionally identified in other 3 families, which was confirmed by PCR and gel electrophoresis. We developed simplified grep search program to detect this Alu Y insertion in RP1 exon 4. The simple grep search revealed a median variant allele frequency of 0.282 (interquartile range, 0.232–0.383), with no false-positive results using 120 control samples. The MEI in RP1 exon 4 was a common founder mutation in Korean, occurring in 1.8% of our cohort. The RP1 - Alu grep program efficiently detected the Alu Y insertion, without the preprocessing of raw data or complex installation processes.

ObjectiveThis study aims to provide updated prevalence estimates of myopia and high myopia among late adolescent men in Seoul, South Korea, and predict future trends up to 2050.Methods and analysisThis cross-sectional and population-level study includes late adolescent men of the same age who underwent a series of medical examinations at the Seoul Regional Military Manpower Administration between 2013 and 2022. The population with myopia and high myopia was estimated, and the prevalence for 2050 was forecasted. Associated risk factors and ocular disease status of the high myopia population were investigated.ResultsOver the 10-year period, the prevalence of myopia and high myopia among late adolescent men in Seoul was 70.67% and 20.29%, respectively. Between 2013 and 2022, the prevalence of the myopia and high myopia has increased significantly (p<0.001 and 0.006, respectively). The annual growth rate for the prevalence of myopia and high myopia was 0.61% and 0.33%, respectively. Regression analyses predicted that by 2050, myopia and high myopia prevalence will reach 90.90% and 31.26% by linear regression, and 90.75% and 31.17% by non-linear regression, respectively. Risk factor analysis identified that a high education level was associated with a higher prevalence of high myopia. Retinal detachment was significantly more common among those with high myopia, while retinal dystrophy was less common.ConclusionThis study highlights a concerning trend of increasing myopia and high myopia prevalence, which is likely to reach 90.90% and 31.26% by 2050, with significant future burden for public health and society.

The PAX6 is essential for ocular morphogenesis and is known to be highly sensitive to changes in gene expression, where neither over- nor under-expression ensures normal ocular development. Two unrelated probands with classical aniridia who were previously considered \"PAX6-negative\", were studied by whole-genome sequencing. Through the use of multiple in silico deep learning-based algorithms, we identified two novel putative causal mutations, c.-133_-132del in the 5' untranslated region (5'-UTR) and c.-52 + 5G>A in an intron upstream of the PAX6 gene. The luciferase activity was significantly increased and VAX2 binding was disrupted with the former 5'-UTR variant compared with wild-type sequence, which resulted in a striking overexpression of PAX6. The minigene assay showed that the c.-52 + 5G>A mutation caused defective splicing, which resulted in the formation of truncated transcripts.

Background This study evaluate the efficacy of part-time patching in preventing recurrence after bilateral lateral rectus recession (BLR) in patients with intermittent exotropia (IXT). Methods A total of 190 children aged 3–13 years who experienced recurrence after BLR for IXT and received part-time patching were retrospectively reviewed. The patching was prescribed for 2 h per day for more than 6 months. Patients who had a recurrence of 18 PD or more underwent reoperation. Changes in exodeviation and reoperation ratio after part-time patching were analyzed. Results A total of 34 patients (17.9%) received reoperation after part-time patching, and the reoperation ratio after 2 years was 20.3% as per the Kaplan–Meier survival analysis. Patients with a recurrence of 7 to 10 PD showed a significantly better effect compared to those with a recurrence of more than 10 PD ( p  < 0.001), and the reoperation ratio was also lower in the survival analysis ( p  = 0.004). The factor associated with reoperation in patients with part-time patching was the duration between the operation and the initiation of part-time patching (hazard ratio [HR] = 1.006, p  = 0.002). Conclusions Part-time patching was effective in maintaining the efficacy of surgery and delaying the need of reoperation after BLR. This effect was better in patients with a recurrence of ≤ 10 PD.

The prevalence of myopia is rapidly increasing, significantly impacting the quality of life of affected individuals. Prior research by our group revealed reactive gliosis in Müller cells within myopic retina, prompting further investigation of their role in myopia, which remains unclear. In this study, we analyzed protein expression changes in CD29+ Müller cells isolated from a form deprivation-induced rabbit model of myopia using magnetic activated cell sorting to investigate the role of these cells in myopia. As the principal glial cells in the retina, Müller cells exhibited significant alterations in the components of metabolic pathways, particularly glycolysis and angiogenesis, including the upregulation of glycolytic enzymes, such as lactate dehydrogenase A and pyruvate kinase, implicated in the adaptation to increased metabolic demands under myopic stress. Additionally, a decrease in the expression of proteins associated with oxygen transport suggested enhanced vulnerability to oxidative stress. These findings highlight the proactive role of CD29+ Müller cells in modifying the retinal environment in response to myopic stress and provide valuable insights into mechanisms that could help mitigate myopia progression.

Bickerstaff’s brainstem encephalitis is a rare autoimmune disorder that presents with ataxia, ophthalmoplegia, disturbance of consciousness and quadriplegia. A 45-year-old man with a history of ulcerative colitis (UC) taking mesalazine (5-aminosalicylic acid) visited the emergency room presenting with ataxia, ophthalmoplegia and a progressively worsening cognitive impairment. Cerebrospinal fluid analysis showed mild elevation in protein and white blood cell count and increased intracranial pressure. Anti-GQ1b autoantibodies were found positive in the patient’s serum and contrast-enhanced brain magnetic resonance imaging showed diffuse leptomeningeal enhancement and pontine lesions. Based on these findings and the patient’s clinical course and history, he was diagnosed with Bickerstaff’s brainstem encephalitis. Mesalazine was discontinued and high-dose steroid pulse therapy was started, followed by intravenous immunoglobulin, which resulted in gradual improvement of the neurologic symptoms. When an ulcerative colitis patient presents with progressive cognitive impairment, quadriplegia and disturbance of consciousness and gait, Bickerstaff brainstem encephalitis should be considered in the differential diagnosis and prompt immunotherapy may lead to favorable prognosis.