This study aimed to investigate the clinical characteristics of Korean patients with retinal dystrophy associated with pathogenic variants of cone rod homeobox-containing gene (CRX). We retrospectively enrolled Korean patients with CRX-associated retinal dystrophy (CRX-RD) who visited two tertiary referral hospitals. Pathogenic variants were identified using targeted panel sequencing or whole-exome sequencing. We analyzed clinical features and phenotypic spectra according to genotype. Eleven patients with CRX-RD were included in this study. Six patients with cone-rod dystrophy (CORD), two with macular dystrophy (MD), two with Leber congenital amaurosis (LCA), and one with retinitis pigmentosa (RP) were included. One patient (9.1%) had autosomal recessive inheritance, and the other ten patients (90.9%) had autosomal dominant inheritance. Six patients (54.5%) were male, and the mean age of symptom onset was 27.0 ± 17.9 years. At the first presentation, the mean age was 39.4 ± 20.6 years, and best-corrected visual acuity (BCVA) (logMAR) was 0.76 ± 0.90 in the better eye. Negative electroretinography (ERG) was observed in seven (63.6%) patients. Nine pathogenic variants were identified, including two novel variants, c.101-1G>A and c.898T>C:p.(*300Glnext*118). Taken together with the variants reported in prior studies, all variants within the homeodomain are missense variants, whereas most variants downstream of the homeodomain are truncating variants (88%). The clinical features of pathogenic variants within the homeodomain are either CORD or MD with bull’s eye maculopathy, whereas variants downstream of the homeodomain cause more diverse phenotypes, with CORD and MD in 36%, LCA in 40%, and RP in 24%. This is the first case series in Korea to investigate the CRX-RD genotype–phenotype correlation. Pathogenic variants downstream of the homeodomain of the CRX gene are present as RP, LCA, and CORD, whereas pathogenic variants within the homeodomain are mainly present as CORD or MD with bull’s eye maculopathy. This trend was similar to previous genotype–phenotype analyses of CRX-RD. Further molecular biologic research on this correlation is required.

To investigate and compare the clinical characteristics of patients with unilateral high myopia (UHM) and bilateral high myopia (BHM) based on axial length (AL). A retrospective cohort study. Adult patients diagnosed with UHM or BHM between March 2011 and August 2021. Unilateral high myopia was defined as ≥26 mm AL in 1 eye and <26 mm in the other, with ≥2 mm difference. Bilateral high myopia was defined as ≥26 mm AL in both eyes, with ≤3 mm difference. In each patient, the eye with the longer AL was designated the “longer eye” and the other the “shorter eye.” We analyzed differences in clinical features, including ophthalmic history, best-corrected visual acuity, ocular biometry, and myopic maculopathy grade. Myopic maculopathy was graded based on atrophy, traction, and neovascularization using a known method. Long-term features included treatments for myopic neovascular maculopathy and myopic tractional maculopathy and AL change over time. Comparison of clinical characteristics between UHM and BHM groups. We analyzed 369 patients (79 with UHM and 290 with BHM) with a median follow-up period of 4.5 years. The UHM group had a higher proportion of women than the BHM group (88.8% vs. 76.2%, P = 0.025). Compared with longer eyes in the BHM group, those in the UHM group had worse best-corrected visual acuity (0.8 ± 0.6 vs. 0.6 ± 0.6 in logarithm of the minimum angle of resolution, P < 0.001) despite having shorter AL (29.1 ± 1.6 mm vs. 30.6 ± 1.9 mm, P < 0.001). In the analysis of AL changes, shorter eyes in the UHM group showed no elongation over time (0.014 mm/year, P = 0.12), unlike the longer eyes in UHM and both eyes in BHM (0.049–0.071 mm/year, P < 0.01). Adult UHM patients mostly lacked associated environmental factors. The poorer visual acuity in the longer eyes of UHM patients, which cannot be explained by structural abnormalities, suggests that the interocular difference may have originated in early childhood. During the follow-up period, AL elongation and myopic complications occurred at similar rates in the longer eye of UHM and both eyes of BHM. Meanwhile, such changes were not observed in the shorter eye in UHM. Further investigation of the underlying mechanisms, such as the genetic factors contributing to this extreme asymmetry, is warranted. The author(s) have no proprietary or commercial interest in any materials discussed in this article.

Background: Endophthalmitis is an ophthalmic emergency in which early identification of concurrent systemic infection is important for appropriate clinical management, yet this distinction is often challenging at presentation. Methods: We conducted a retrospective cohort study of patients diagnosed with endophthalmitis at a tertiary referral center between 2017 and 2023. Serum procalcitonin (PCT), C-reactive protein (CRP), white blood cell count, and absolute neutrophil count obtained at presentation were analyzed in relation to clinical classification and systemic infection status, with exploratory receiver operating characteristic (ROC) analyses and Decision Curve Analysis (DCA) used to evaluate diagnostic performance and clinical utility. Results: Among 152 patients, serum inflammatory marker levels were significantly higher in patients classified as having endogenous endophthalmitis than in exogenous cases (p < 0.01), with the greatest separation observed for PCT and CRP. In ROC analyses, PCT demonstrated greater discriminatory capacity for concurrent systemic infection than other markers, with a sensitivity of 91.8%, specificity of 97.9%, and an area under the curve (AUC) of 0.964 at an ROC-derived threshold of 0.11 ng/mL. CRP also showed high discriminatory performance (AUC 0.947), whereas white blood cell count and absolute neutrophil count showed lower AUC values. In patients presenting with endophthalmitis and concurrent uncontrolled systemic infection, PCT showed a higher AUC than CRP (0.995 vs. 0.939). Furthermore, DCA demonstrated that a comprehensive model combining inflammatory biomarkers with clinical risk factors provided the highest net benefit for clinical triage. Conclusions: These findings suggest that serum PCT, particularly when integrated into a multidimensional clinical assessment, may serve as a valuable adjunctive tool to support early triage when systemic infection is a concern.

To describe a new use of Finesse Flex loop to unfold the rolled edge of a retinal tear in retinal detachment surgery. A consecutive retrospective case series of three patients with rhegmatogenous retinal detachment (RRD) were included. The surgical technique included a 25-gauge pars plana vitrectomy, followed by a core vitrectomy and peripheral vitreous shaving. Following this, the posterior boundary of the retinal tear was found to be folded. During the process of unfolding and flattening this folded area, the retinal tear was carefully unfolded using a Finesse flex loop, followed by fluid-air exchange. Endolaser photocoagulation was performed around the retinal tear, and a gas tamponade was injected. All three patients demonstrated stable retinal reattachment without postoperative complications and showed improved visual acuity. This loop can be used effectively in patients with retinal folds, especially in cases where early proliferative vitreoretinopathy (PVR) changes make unfolding difficult.