Jae Ho Jung

Background: Current knowledge regarding the causes, clinical course, treatment response, and long-term outcomes of pediatric optic neuritis remains largely derived from case reports and retrospective series. Considering the ethnic variability in its presentation and the critical role of antibody-based differential diagnoses in guiding treatment strategies, further research is necessary. The aim of this study was to provide insights into the etiology and clinical findings of pediatric optic neuritis, thereby improving our knowledge of the condition in the era of antibody-based approaches. Methods: This prospective multicenter cohort study was conducted at 31 referral medical centers. Patients younger than 18 years with first-episode optic neuritis were included. All patients underwent comprehensive neuro-ophthalmic examinations, including aquaporin-4–IgG and myelin oligodendrocyte glycoprotein–IgG testing and brain/orbit MRI. The primary outcome measure was best-corrected visual acuity (BCVA) at 6 months. Best-corrected visual acuity was further categorized into high vision (BCVA ≥ 20/40), moderate vision (20/200 < BCVA < 20/40), and low vision (BCVA ≤ 20/200). Results: Overall, 44 pediatric patients were enrolled, with a mean age at onset of 10.7 ± 3.5 years. Bilateral optic neuritis and optic disc swelling were observed in 56.8% and 81.8% of patients, respectively. The mean BCVA at enrolment was 0.99 ± 0.89 logMAR, which improved significantly to 0.24 ± 0.52 logMAR at 6 months. The final 6-month diagnoses included myelin oligodendrocyte glycoprotein antibody–associated disease (n = 30 [68.2%]), isolated optic neuritis (n = 11 [25.0%]), acute disseminated encephalomyelitis (n = 2 [4.5%]), multiple sclerosis (n = 1 [2.3%]). No patients had neuromyelitis optica. At the 6-month follow-up, 50.0% showed improvement in the visual category, 50.0% maintained their visual category, and none experienced deterioration. There were no significant predictors related to poor BCVA at enrolment and at 6 months. Conclusion: Pediatric optic neuritis exhibits severe visual deficits but shows good recovery. Myelin oligodendrocyte glycoprotein antibody–associated disease is the most common etiology. These findings reflect the distinct characteristics of pediatric optic neuritis and provide important baseline data for developing tailored treatment strategies.

Purpose: We compared the surgical outcomes of medial rectus recession (MR Rc) and lateral rectus resection (LR Rs) in patients with divergence insufficiency esotropia, characterized by greater esotropia (ET) at distance than at near.Methods: This retrospective comparative study included 22 patients who underwent either MR Rc or LR Rs for divergence insufficiency esotropia, defined as comitant ET with >8 prism diopters (PD) difference between distance and near, with persistent diplopia at distance. Surgical success was defined as final deviation <8 PD with diplopia-free status at distance and near at 12 months postoperatively. The mean dose-response ratio (PD/mm) of each surgical technique was analyzed.Results: Of the 22 patients, 13 underwent MR Rc and 9 underwent LR Rs. The surgical success rate was higher in the LR Rs group than in the MR Rc group; however, the difference was not statistically significant (69% vs. 100%, p = 0.11). In the MR Rc group, three patients had under-correction and one had over-correction. The mean dose-response ratio for distance was 2.43 ± 0.51 PD/mm at 1 week and 2.15 ± 0.93 PD/mm at 12 months, whereas for near it was 1.89 ± 0.83 and 1.69 ± 1.06 PD/mm, respectively. In the LR Rs group, all patients achieved surgical success. The mean dose-response ratio for distance was 1.96 ± 0.46 and 1.91 ± 0.51 PD/mm at 1 week and 12 months, whereas for near it was 1.23 ± 0.42 and 1.13 ± 0.52 PD/mm, respectively.Conclusions: Both surgical techniques demonstrated favorable outcomes for divergence insufficiency esotropia. However, the dose-response ratio was more predictable in LR Rs surgery. For MR Rc, augmented surgical approaches may be considered to improve predictability and success rates.

To evaluate the characteristics and treatment outcomes for presumed unilateral congenital superior oblique palsy (SOP) in adults. Retrospective medical rec

Purpose: To explore the association between cumulative exposure to outdoor artificial light at night (O-ALAN) during pregnancy and risk of childhood strabismus. Methods: In this nationwide population-based case-control study, an entire-South-Korean-population mother-child-pair cohort representing births for the years 2008 to 2011 and residing in urban areas was identified based on the National Health Insurance Service (NHIS) database. Average levels of O-ALAN at the residential addresses of mothers during pregnancy were estimated using time-varying satellite data, providing a composite view of persistent nighttime illumination at approximately a ∼1 km ² scale. The odds ratios (ORs) and 95% confidence intervals (CIs) for the association between O-ALAN and strabismus risk were calculated using maximum likelihood estimation, adjusting for socio-demographic and area-based risk factors (e.g., nighttime traffic noise, particulate matter ≤10 μm). Results: The study included 755,796 mother-child pairs (mean [SD] maternal age, 32.4 [3.9] years; 51.9% boys). An interquartile range (IQR) increase in O-ALAN (21.7 nW/cm ² /sr) was associated with an OR of 1.159 (95% CI: 1.145, 1.172) for childhood strabismus. The exposure-response curve showed a non-linear pattern, with stronger associations at higher exposure levels (approximately 40 nW/cm2/sr). Sub-analysis revealed a significant association for exotropia (OR: 1.179 [95% CI: 1.158, 1.200]), but not for esotropia (OR: 1.011 [95% CI: 0.977, 1.045]) or vertical strabismus (OR: 1.107 [95% CI: 0.982, 1.250]). Conclusion: Higher levels of residential O-ALAN during pregnancy were associated with increased risk of childhood strabismus in this cohort. Further research with more detailed information on exposure and potential mediators is warranted.

Alport syndrome, characterized by renal failure, hearing loss, and ocular abnormalities due to collagen type IV gene mutations, exhibits distinctive ocular manifestations in the various ocular tissues including the cornea, lens, and retina. Ophthalmological examinations, providing noninvasive visibility of basement membrane anomalies caused by collagen type IV mutations, can have a role in Alport syndrome diagnostics. Lenticonus, macular fleck, and other abnormalities also can serve as indicators of inheritance patterns and predictors of severe mutations or early-onset renal failure. Recognizing these manifestations in advance enables timely surgical intervention, potentially improving long-term visual outcomes. This review highlights the ocular features in Alport syndrome and contributes to the understanding of the relationships among ocular abnormalities as well as the genotype-phenotype correlations in Alport syndrome. In these ways, hopefully, it will guide further research and help to inform the development of clinical strategies.

PAX2-related disorders encompass renal coloboma syndrome (RCS) and hereditary focal segmental glomerulosclerosis (FSGS) type 7. We retrospectively analyzed 27 Korean patients with PAX2 pathogenic variants detected between 2004 and 2022 and conducted a literature review of 328 cases, including 301 previously reported. In our cohort, 19 had RCS, 4 had FSGS, and 4 had isolated congenital anomalies of the kidneys and urinary tract. Patients were classified by variant type into predicted loss of function (pLoF) and non-pLoF variant groups, and by variant location into paired domain and other sites group. pLoF variants were predominantly associated with RCS, observed in 82% of patients in both our data (18 of 22, P = 0.017) and the literature (140 of 171, P < 0.001). Kidney failure developed in 52% of Korean patients at a median age of 14.5 years, with no difference in kidney survival between variant types. However, the literature review indicated faster progression to kidney failure in patients with pLoF variants (11.0 vs. 24.0 years; pLoF, n = 138 vs. non-pLoF, n = 71; P = 0.002), with no significant difference by variant location. Ocular manifestations were more common, had earlier onset, and were more severe in the pLoF variants group in our cohort (P = 0.038). The literature confirmed a higher prevalence of ocular involvement in patients with pLoF variants (pLoF, n = 175 vs. non-pLoF, n = 88; P < 0.001) and in those with paired domain variants (P = 0.01). pLoF variants in PAX2 were associated with worse kidney and ocular outcomes. These findings support genotype-phenotype correlations, contributing to tailored management in patients with PAX2-related disorders.

Background: Longitudinal changes in the inner retina in patients with optic neuritis (ON) may be helpful in monitoring patients and determining maintenance treatment. The aim of this study was to investigate longitudinal changes in the inner retina after subsiding of acute demyelinating ON and to identify the factors associated with such changes. Methods: In this multicenter retrospective observational study, we reviewed the medical records of 77 patients with ON, including 23 with neuromyelitis optica spectrum disorder with aquaporin 4 (AQP4)-immunoglobulin G (IgG) (AQP4 group), 23 with myelin oligodendrocyte glycoprotein (MOG)-antibody-associated disease (MOG group), 18 with multiple sclerosis (MS group), and 13 with idiopathic ON (iON group). We measured the thickness of the peripapillary retinal nerve fiber layer (pRNFL) and the macular ganglion cell-inner plexiform layer (mGCIPL) using optical coherence tomography (OCT) at baseline and at follow-up examinations (mean follow-up duration, 29.6 ± 8.6 months; mean number of OCT, 4.2 ± 1.2) in the absence of ON recurrence. Results: The estimated rate of pRNFL thinning in the AQP4, MOG, MS, and iON groups was 0.66 (95% confidence interval, 0.35–0.97), 0.35 (0.04–0.66), 0.53 (0.16–0.90), and 0.25 (−0.18 to 0.68) μm/year, respectively, indicating that, in the iON group in contrast to the other groups, there was no significant decrease of pRNFL thickness. Among the AQP4, MOG, and MS groups, there was no significant difference in the rate of pRNFL thinning (P = 0.560). The rate of mGCIPL thinning in the AQP4 and MOG groups was 0.25 (0.04–0.46) μm/year and 0.38 (0.23–0.53) μm/year, respectively. Meanwhile, the rate of mGCIPL change in the MS and iON groups was 0.04 (−0.12 to 0.19) and 0.00 (−0.17 to 0.16) μm/year, respectively, which indicates that there was no significant mGCIPL thinning in the latter 2 groups. Between the AQP4 and MOG groups, meanwhile, the rate of mGCIPL change did not significantly differ (P = 0.295). Age older than 40 years was associated with significant progression of mGCIPL thinning (P = 0.005). Conclusions: We noted inner retina thinning progression independent of relapse activity in AQP4-ON, MOG-ON, and MS-ON. Because subclinical neuroaxonal damage continues to be incurred after an acute attack of ON subsides despite suppression of new attacks, long-term follow-up and neuroprotection should be considered to be integral to the treatment of patients with ON.

Optical coherence tomography (OCT) displays the retinal nerve fiber layer (RNFL) or macular ganglion cell and inner plexiform layer (GCIPL) thickness below 1st percentile in red color. This finding generally indicates severe inner-retinal structural changes and suggests poor visual function. Nevertheless, some individuals show preserved visual function despite these circumstances. This study aimed to identify the correlation between best-corrected visual acuity (BCVA) and inner-retinal thickness based on OCT parameters in various optic neuropathy patients with extremely low RNFL/GCIPL thickness, and determine the limitation of OCT for predicting visual function in these patients. 131 patients were included in the study. The mean BCVA in logMAR was 0.55 ± 0.70 with a broad range from − 0.18 to 3.00. Among the OCT parameters, temporal GCIPL (r = − 0.412) and average GCIPL (r = − 0.366) exhibited the higher correlations with BCVA. Etiological comparisons of optic neuropathies revealed significantly lower BCVA in LHON (all p < 0.05). Idiopathic optic neuritis (ON) and MOGAD exhibited better and narrower BCVA distributions compared to the other optic neuropathies. OCT had limited utility in reflecting BCVA, notwithstanding significant inner-retinal thinning after optic nerve injuries. Caution is needed in interpreting OCT findings, especially as they relate to the etiology of optic neuropathy.

AIM: To compare the macular structure including foveal thickness among patients with optic neuritis (ON) according to the etiology and to investigate the possible correlation between structural and visual outcomes METHODS: In this retrospective cross-sectional study, the clinical data of patients with aquaporin-4 immunoglobulin G-related ON (AQP4 group, 40 eyes), myelin oligodendrocyte glycoprotein IgG-related ON (MOG group, 31 eyes), and multiple sclerosis-related ON (MS group, 24 eyes) were obtained. The retinal thickness of the foveal, parafoveal and perifoveal regions were measured. Visual acuity (VA), visual field index and mean deviation were measured as visual outcomes. RESULTS: The AQP4 group showed a significantly thinner fovea (226.4±13.4 μm) relative to the MOG (236.8±14.0 μm, P=0.015) and MS (238.9±14.3 μm, P=0.007) groups. The thickness in the parafoveal area also was thinner in the AQP4 group, though the difference in perifoveal retinal thickness was not significant. Foveal thickness was correlated with VA in the AQP4 group (coefficient ρ=-0.418, P=0.014), but not in the MOG and MS groups (P=0.218 and P=0.138, respectively). There was no significant correlation between foveal thickness and visual field test in all three groups. CONCLUSION: The significant thinning in the fovea and parafoveal areas in the AQP4 group compared to the MOG and MS groups are found. Additionally, macular changes in AQP4-ON show a significant correlation with VA. The results provide the possibility that retinal structural damage could reflect functional damage in AQP4-ON, distinct from MOG-ON and MS-ON.