Pediatric optic neuritis is a demyelinating optic nerve inflammation in children, characterized by acute vision loss and visual field defects, often accompanied by eye movement pain, color vision abnormalities, and relative afferent pupillary defects. It can manifest as an isolated episode or as part of broader demyelinating disorders such as multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease. Its incidence varies globally, with recent studies defining it as optic neuritis in individuals aged <16 years.Current Concepts: Pediatric optic neuritis has distinct clinical features compared to its adult counterpart, particularly in presentation patterns and associated systemic diseases. Children often experience greater visual acuity deficits and are more likely to develop bilateral eye involvement, severe optic disc swelling, and accompanying encephalopathic features than adults. Epidemiological studies have shown that it is relatively rare, with varying incidence rates across different regions. Diagnostic criteria are primarily based on clinical assessment, magnetic resonance imaging findings, and serological tests, including antibodies against specific biomarkers such as anti-MOG and anti-aquaporin-4 antibodies. Treatment strategies for pediatric optic neuritis involve high-dose corticosteroids followed by tapering and, in severe cases, plasma exchange or intravenous immunoglobulins. Long-term management may require immunosuppressants or biological agents, particularly in cases progressing to MS or NMOSD.Discussion and Conclusion: Understanding the unique aspects of pediatric optic neuritis is crucial for appropriate management and improving outcomes. Further studies are needed to refine diagnostic and therapeutic approaches for this condition.

Mutations in the RPE65 gene, associated with Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa, gained growing attention since gene therapy for patients with RPE65-associated retinal dystrophy is available in clinical practice. RPE65 gene accounts for a very small proportion of patients with inherited retinal degeneration, especially Asian patients. Because RPE65-associated retinal dystrophy shares common clinical characteristics, such as early-onset severe nyctalopia, nystagmus, low vision, and progressive visual field constriction, with retinitis pigmentosa by other genetic mutations, appropriate genetic testing is essential to make a correct diagnosis. Also, fundus abnormalities can be minimal in early childhood, and the phenotype is highly variable depending on the type of mutations in RPE65-associated retinal dystrophy, which makes a diagnostic difficulty. The aim of this paper is to review the epidemiology of RPE65-associated retinal dystrophy, mutation spectrum, genetic diagnosis, clinical characteristics, and voretigene neparvovec, a gene therapy product for the treatment of RPE65-related retinal dystrophy.

Purpose: We share and analyze the clinical presentations and genotypes of Korean male patients and female carriers who visited our clinic. Methods: Six male patients and three female carriers with comprehensive ophthalmic examinations and next-generation sequencing were included. Detailed clinical features were identified using visual field (VF) test and multimodal imaging including color fundus photography, fundus autofluorescence (FAF), and optical coherence tomography (OCT). Results: Six male patients were diagnosed with choroideremia at the median age of 25 years. Before genetic testing, three patients (50.0%) were clinically diagnosed with choroideremia, while the other three patients (50.0%) with retinitis pigmentosa. Patients showed different types of hemizygous CHM variants, including two nonsense variants, c.715C>T:p.(Arg239*) and c.799C>T:p.(Arg267*); two frameshift variants, c.1584_1587del:p.(Val529Hisfs*7) and c.403_404del:p.(Asp135Phefs*9); one splicing variant c.1511-28_1511-2del; and one exon 2-8 duplication. The latter three variants were novel. Two female carriers had heterozygous exon 2-8 duplication and the other one female carrier had heterozygous nonsense variant c.715C>T:p. (Arg239*). Fundus showed diffuse yellow-whitish scleral reflex and granular pigmented lesions. FAF showed multiple patchy hypofluorescence lesions, sparing macula. OCT showed thinning of outer nuclear layer, ellipsoid zone, retinal pigment epithelium layer, choroid thickness, interlaminar bridges, outer retinal tubulations, and microcysts in the inner nuclear layer. VF showed ring scotoma pattern with small amount of remaining central field. Asymptomatic female carriers showed variable fundus findings and mild changes in OCT. Conclusions A detailed description of the genotypes with three novel mutations and phenotypes of six choroideremia patients and three CHM mutation female carriers are presented.

Purpose: To evaluate the test-retest reliability of a contour-based stereoacuity test using a head-mounted display (HMD) and compare it with other stereotests. Methods: Thirty-two healthy adults aged 23-47 years were recruited from a tertiary hospital between August 2017 and July 2018. Two separate contour-based circles (crossed disparity: 135-1,350 arcsecs) were generated on a high-resolution phone display (Galaxy S7; Samsung, Seoul, Korea) using an HMD (Galaxy Gear VR). Two images were independently projected to each eye as graded circles with a random dot background. The results of the new HMD stereotest were compared to those of the standard Randot and TNO stereotests. The test-retest reliability was assessed using the Bland-Altman plot and Cohen’s kappa statistics. Results: Among the 32 study participants, 17 (53%) were males and the mean age was 30.1 ± 4.8 years (range: 23-47). The mean stereoacuity was 160.3 ± 53.5 arcsecs in the first HMD stereotest (HMD1), 28.4 ± 12.5 arcsecs in the Randot stereotest, 96.1 ± 83.5 arcsecs in the TNO stereotest, and 143.3 ± 47.7 arcsecs in the second HMD stereotest (HMD2). The Bland-Altman plot showed a mean difference of 0.042 (-0.189 to +0.272, 95% limits of agreement) between HMD1 and HMD2. The reliability analysis showed an intraclass correlation coefficient of 0.499 (p = 0.022) and agreement of 81.25% in Cohen’s kappa statistics (Cohen’s kappa index = 0.119, p = 0.017). Conclusions The HMD stereotest without monocular cues showed fair test-retest reliability and reproducibility. Further studies using a high resolution display are needed to confirm the validity of the HMD stereotest.

Purpose: An adequate minimal surgical margin for partial nephrectomy (PN) has not yet been conclusively established. Therefore, we aimed to compare PN recurrence rates according to surgical margin status and to establish an adequate minimal surgical margin. Materials and Methods: We retrospectively studied patients with clinically localized renal cell carcinoma who underwent PN between 2005 and 2014. Surgical margin width (SMW) was assessed for all surgical tissues and divided into three groups: SMW <1 mm, SMW ≥1 mm, and positive surgical margin (PSM). The data were analyzed using the Kaplan-Meier method with log-rank tests and multivariate Cox regression models. Results: Of 748 patients (median age, 55 years; interquartile range, 46–64 years; 220 female), 704 (94.2%) and 44 (5.8%) patients had negative and PSMs, respectively. Recurrence-free survival was significantly lower in patients with PSMs (p<0.001) and was not significantly different between SMW ≥1 mm and <1 mm groups (p=0.604). PSM was a significant predictor of recurrence (hazard ratio: 8.03, 95% confidence interval: 2.74–23.56, p<0.001), in contrast to SMW <1 mm (p=0.680). Conclusion A PSM after PN significantly increases the risk of recurrence. We discovered that even a submillimeter safety surgical margin may be enough to prevent recurrence. To maximize normal renal parenchyma preservation and to avoid cancer recurrence in renal parenchymal tumor patients, PN may be a safe treatment, except for those with a PSM in the final pathology.