To identify which steps of the 360° scleral encircling (SE) procedure pose the greatest training challenges for retina fellows by analyzing surgical videos and evaluating changes in operative time across a two-year training period. We retrospectively analyzed videos of SE procedures performed by vitreoretinal fellows at a single academic center (2018–2024). Only cases involving 360° SE without concurrent vitrectomy or gas tamponade were included. For each case, total operative time and the duration of six predefined steps were measured. Cases with damaged videos or performed by fellows with ≤ 5 analyzable cases were excluded. Between-fellow comparisons and learning-curve trends were assessed using analysis of variance and correlation analyses. Fifty-five SE cases performed by six fellows met inclusion criteria. Mean total operative time was 132.27 ± 42.92 min, with significant inter-individual differences (p = 0.0007). Among all steps, binocular indirect ophthalmoscopy showed the greatest inter-individual variability (p < 0.0001), followed by scleral suturing (p = 0.0009) and tire positioning (p = 0.006). Across training, the duration of indirect ophthalmoscopy did not show measurable reduction for any fellow. Five of six fellows demonstrated a significant decrease in total operative time correlated with training progression (p < 0.05 for each), with a marked early decrease within their first five cases, followed by a plateau. Binocular indirect ophthalmoscopy demonstrated the largest variability and the least improvement during SE training. Prioritizing targeted instruction in this technically demanding step may accelerate skill acquisition and improve overall operative efficiency for early-career ophthalmologists.

Acute anterior uveitis (AAU) is the most common extra-musculoskeletal manifestation of radiographic axial spondyloarthritis (r-axSpA) and is an important consideration when selecting biological therapy. Although adalimumab (ADA) and infliximab are commonly used in patients with r-axSpA and AAU, direct comparative evidence, particularly between ADA and subcutaneous infliximab (IFX-SC), remains limited. The objective of this study was to compare the risk of AAU flare between ADA and IFX-SC in patients with r-axSpA and a history of AAU. This multicenter, head-to-head, randomized, open-label trial enrolled patients with r-axSpA and a documented AAU event within the preceding 2 years. Participants were randomly assigned (1:1) to receive ADA (40 mg every 2 weeks) or IFX-SC (intravenous 5 mg/kg induction followed by subcutaneous 120 mg every 2 weeks) and were followed for 48 weeks. The primary endpoint was AAU flare occurrence. Hazard ratios (HRs) were estimated using Cox proportional hazards models. Secondary endpoints included changes in best-corrected visual acuity (BCVA), r-axSpA disease activity and functional indices, and safety outcomes. Fifty-six patients were randomized (ADA, n = 28; IFX-SC, n = 28). During follow-up, one AAU flare episode occurred in each group. The adjusted HR of IFX-SC (vs ADA) for an AAU flare was 0.496 (95

Purpose: To evaluate how variations in suture type, suture length, and scleral outlet angle affect intraocular lens (IOL) positioning and fixation stability in the Canabrava technique, given ongoing concerns such as iris chafing and the lack of prior quantitative assessment. Setting: Laboratory-based experimental study using 3D-printed model eyes. Design: Experimental study using 3D-printed ocular models with controlled variation of fixation parameters. Methods: Using 3D-printed eye models, IOL fixation was performed with the Canabrava technique using Artis PLE IOLs. Suture types (5-0 Prolene, 6-0 Prolene, 6-0 Pronova), suture lengths (8 mm, 10 mm), and scleral outlet angles (30 degrees, 45 degrees) were systematically varied. IOL tilt and optic-haptic distance were measured using ImageJ. Fixation strength was assessed using a universal testing machine to measure the force required to produce a 2.5 mm linear displacement of IOL. Results: IOL tilt was not significantly affected by suture type but increased with longer suture length (10.0 mm vs 8.0 mm) for both 5-0 and 6-0 Prolene. Optic-haptic distance showed minimal variation, with differences noted only in the 5-0 Prolene and 6-0 Pronova groups at 8.0 mm. Scleral outlet angle also had no significant impact on optic-haptic distance. Displacement force did not differ significantly between suture types. Conclusions: Caution is advised in patients with a predisposition to iris chafing because the risk may persist regardless of fixation parameters.

Gestational diabetes mellitus (GDM) is a well-established risk factor for subsequent type 2 diabetes mellitus (T2DM). However, its long-term association with diabetic microvascular complications, particularly diabetic retinopathy (DR), and the joint role of polycystic ovary syndrome (PCOS) remain incompletely understood. Using the Korean National Health Insurance Service database, we conducted a nationwide retrospective cohort study including 406,309 women who had their index delivery between 2005 and 2012. Standard Cox proportional hazards models were used to evaluate the incidence of T2DM and systemic complications. For DR and vision-threatening DR (VTDR), time-varying covariate Cox models were applied in the full cohort, with incident T2DM treated as a time-dependent variable. Sensitivity analyses restricted to women who developed T2DM were also performed. Stratified analyses evaluated the joint and independent effects of coexisting PCOS. During follow-up, women with prior GDM had a higher risk of developing T2DM (adjusted hazard ratio [aHR] 3.52; 95

OBJECTIVE:To investigate macular vascular abnormalities in patients with unilateral pigmentary retinopathy (UPR) using swept-source optical coherence tomography angiography (OCTA). METHODS:Patients with UPR who had pigmentary retinopathy in 1 eye and no functional or structural abnormalities suggestive of pigmentary retinopathy in the fellow eye were included. Age- and sex-matched healthy controls were also recruited. Quantitative microvascular parameters were compared between the affected and unaffected eyes of UPR, and between the unaffected eyes of UPR patients and those of healthy controls. RESULTS:Eleven patients with UPR and 11 healthy individuals were included. Affected eyes demonstrated significantly lower perfusion density (PD) in the superficial capillary plexus (SCP; 35.64% ± 6.18%) and deep capillary plexus (DCP; 14.35% ± 6.34%) than in unaffected eyes (SCP; 43.47% ± 1.72%; p = 0.004; DCP; 25.95% ± 5.22%; p = 0.003). There were no significant differences in OCTA variables between the unaffected eyes of patients and control eyes except for the length and size of the DCP foveal avascular zone (FAZ). The preserved width of the inner segment ellipsoid (ISE) was negatively correlated with interocular differences in PD, vessel length density (VLD), FAZ size, and perimeter. Univariable analyses identified preserved ISE width, PD and VLD in both the SCP and DCP, and SCP FAZ size as factors associated with best-corrected visual acuity. CONCLUSIONS:OCTA revealed reduced macular microvasculature in the affected eyes with UPR. Greater structural loss in the affected eye was associated with more pronounced interocular differences in retinal microvasculature. Microvascular alterations and structural deterioration of the photoreceptors show considerable correlation with functional outcomes in these patients.

BACKGROUND/AIMS:To evaluate the effects of intraocular pressure (IOP)-lowering agents in highly myopic eyes. METHODS:Highly myopic patients with axial length (AL) data for longer than 5 years were included. The changes in IOP, AL and myopic macular complications during the study period were compared between the eyes treated with IOP-lowering agents (treatment group) and those never treated (control group). RESULTS:The treatment (30 eyes of 30 patients) and control (90 eyes of 90 patients) groups had comparable baseline characteristics except for IOP, which was significantly higher in the treatment group (p=0.020). During the study period, the treatment group showed a greater mean percentage decrease in IOP per year compared with the control group (-2.13±2.51% /year vs+0.30 ± 2.31% /year; p<0.001). The mean change in AL per year was +0.032 ± 0.050 mm/year in the treatment group and +0.058 ± 0.054 mm/year in the control group (p=0.022), and the difference was more pronounced in eyes with posterior staphyloma or without dome-shaped macula. The progression of myopic macular degeneration (MMD), myopic retinoschisis and myopic choroidal neovascularisation during the study period was comparable between groups, but the increase in MMD category was significantly less frequent in the treatment group (3.3% vs 20.0%; p=0.040). In the multivariate analysis, use of IOP-lowering agents was associated with both decreased axial elongation and lower likelihood of MMD category increase. CONCLUSION:IOP-lowering agents may be effective in alleviating axial elongation and progression of myopic maculopathy in highly myopic eyes.

Neovascular age-related macular degeneration (nAMD) is a leading cause of vision loss in older adults. Treat-and-extend (T&E) regimen for anti-vascular endothelial growth factor therapy are widely used to individualize treatment, yet substantial variability exists in achievable treatment intervals, and reliable baseline predictors remain unclear. This study investigates the association between baseline optical coherence tomography (OCT) biomarkers and treatment interval in eyes with nAMD treated with intravitreal aflibercept using a T&E regimen in real-world clinical settings. This retrospective study analyzed 174 treatment-naïve eyes with nAMD of 167 patients from an initial screening of 536 eyes of 333 patients. Baseline OCT biomarkers were evaluated. Subretinal fluid, intraretinal fluid, and pigment epithelial detachments were automatically quantified using convolutional neural network-based segmentation algorithms. Correlations between OCT measurements and < q12 weeks intervals at 52 weeks were analyzed. Of the 174 eyes included, 78 (44.8%) were treated at intervals < q12 weeks at 12 months. Retinal angiomatous proliferation (RAP) (odds ratio [OR], 2.896; 95% confidence interval [CI], 1.045 − 8.022; p = 0.041), absence of intra/subretinal hemorrhage (OR, 0.381; 95% CI, 0.165 − 0.880; p = 0.024), and longer disruption of external limiting membrane (ELM) (OR, 1.094; 95% CI, 1.018 − 1.176; p = 0.014) and ellipsoid zone (EZ) (OR, 1.066; 95% CI, 1.011 − 1.124; p = 0.018) were significantly associated with < q12 weeks interval, whereas quantitative fluid measurements were not significantly associated with dosing interval. Baseline structural OCT biomarkers were associated with treatment interval requirements in nAMD managed with a T&E regimen, suggesting their potential value for early identification of patients likely to require more intensive treatment.

Pathologic myopia (PM), characterized by excessive axial elongation and structural changes in the posterior segment such as posterior staphyloma, can lead to visual impairment. In this study, we aimed to investigate the vitreous humor metabolomic profiles of PM patients with posterior staphyloma using untargeted metabolomics. We performed metabolomics using high-resolution liquid chromatography-mass spectrometry on the vitreous humor of 27 PM patients with posterior staphyloma who underwent vitrectomy for myopic macular complications. Vitreous samples from 47 controls who underwent vitrectomy for idiopathic epiretinal membrane were analyzed for comparison. Differential metabolite analysis with false discovery rate correction was performed. Metabolic pathway enrichment and functional analyses were performed using MetaboAnalyst 6.0. The median axial length was significantly greater for the PM group than for the controls (31.63 vs. 23.63 mm, P < 0.001). Ninety-five metabolites that distinguished PM patients from controls were identified (Ps < 0.05). Inflammatory metabolites (such as lipoxin C4) and energy or oxidative metabolites (such as succinate, nicotinamide, and malondialdehyde) were altered in the PM group. Several amino acids, including glutamine, were also increased, while tricarboxylic acid cycle–related metabolites, including oxosuccinate, were decreased. Pathway enrichment analysis revealed a significant association with sphingosine metabolism and selenium-related pathway. Distinct alterations in vitreous metabolites related to inflammation, energy metabolism, oxidative stress, and selenium-associated pathways were observed in PM patients with posterior staphyloma. These findings suggest that dysregulated inflammatory and metabolic processes contribute to the pathophysiology of PM.

This study aims to investigate efficacy and safety of ranibizumab biosimilars (Amelivu® and LucenBS®) across retinal diseases in Korean clinical practice. This retrospective, multicenter study enrolled 1153 eyes from 1075 patients across five centers in South Korea between May 2022 and October 2024. Patients received intravitreal ranibizumab biosimilars for neovascular age-related macular degeneration, retinal vein occlusion with macular edema, diabetic macular edema, and other retinal diseases. Treatment-naïve eyes comprised 408 cases (35.4

Purpose:To establish a quantitative correction database for peripheral distortion in ultra-widefield (UWF) fundus imaging across varying axial lengths (AXLs), media, and posterior staphyloma variations. Methods:High-precision three-dimensional printed model eyes were imaged under air and balanced salt solution (BSS) conditions using two commercial UWF systems (Optos 200Tx and Clarus 700). The peripheral distortion index (PDI) was quantified at predefined peripheral angles to characterize relative enlargement compared with the central region. Continuous correction models were generated using least-squares regression. Three posterior staphyloma geometries (wide macular, narrow macular, and decentered) were constructed to calculate location-specific intrastaphyloma correction factors. Results:The PDI increased nonlinearly with the peripheral angle, exceeding 1.5 at 70° and approaching 2.0 at 90° across all configurations in which, eccentricity was the dominant and AXL a minor predictor (P < 0.001). Optos 200DTx produced greater distortion than Clarus 700 under both air (1.206 ± 0.202 vs. 1.163 ± 0.171; P < 0.001) and BSS conditions (1.173 ± 0.167 vs. 1.120 ± 0.138; P < 0.001). Distortion under air was slightly but significantly greater than under BSS in both systems (Optos 200DTx, P = 0.016; Clarus 700, P < 0.001). The analytical model accurately reproduced measured distortion (R² = 0.976-0.993). For posterior staphyloma models, final distortion within staphyloma was calculated by multiplying the baseline PDI by a mean correction factor of 0.904 to 0.984. Conclusions:This study provides a comprehensive quantitative correction database across a wide range of AXL values and continuous analytical models, enabling accurate distortion correction in diverse quantitative studies using UWF imaging. Translational Relevance:A validated, ready-to-use correction database enables accurate, reproducible quantification of peripheral retinal structures across devices, axial lengths, and ocular geometries in ultra-widefield imaging.

Uveitis is a chronic relapsing inflammatory disease that often requires long-term systemic immunomodulatory (IMD) therapy. Pars plana vitrectomy (PPV) is increasingly used as an adjunctive treatment for selected uveitis cases; however, robust long-term evidence remains limited. This retrospective cohort study evaluated 3-year outcomes in 159 uveitic eyes undergoing PPV and a reference group of 22 eyes receiving medical therapy alone to assess visual, anatomical, and systemic treatment burden changes. Following PPV, best-corrected visual acuity (BCVA) improved significantly and remained stable through 36 months (P < 0.001). Central macular thickness decreased from 326.8 to 288.4 μm (P < 0.001), and the proportion of eyes with vitreous haze < grade 1 increased from 24.5% to 90.0%. Systemic corticosteroid doses and the number of IMD agents were significantly reduced at 36 months (both P < 0.001), whereas these improvements were not observed in the reference group. Multivariable analyses identified worse baseline BCVA and higher preoperative intraocular pressure as predictors of poorer visual outcomes. Higher preoperative corticosteroid dose (> 15 mg/day) was associated with improved visual recovery but increased recurrence risk. These findings suggest that PPV is associated with durable visual and inflammatory improvements, and a reduction in systemic treatment burden in uveitic eyes.

Digital device use has substantially altered children’s visual environments, yet the specific behaviors associated with axial elongation and early retinal remodeling remain unclear in highly urbanized settings. This study investigated biological and behavioral correlates of axial length (AL) and associated macular microstructural changes in preadolescent children. Participants underwent ophthalmic examinations and completed questionnaires assessing lifestyle and digital device use factors. Multivariable linear mixed-effects models identified factors associated with AL and macular thickness. The participant-level prevalence of myopia, defined as spherical equivalent ≤ −0.50 D, was 53.2% and increased from 37.1% in Grade 1 to a peak of 78.7% in Grade 4. Older age, a greater number of myopic parents, flatter corneal curvature, male sex, continuous smart device use exceeding 1 h per session, and viewing distance < 30 cm were independently associated with longer AL. Each 1 mm increase in AL was associated with significant subfoveal choroidal thinning and generalized extrafoveal macular thinning, whereas the central fovea remained relatively preserved. Pediatric AL was associated with hereditary susceptibility, specific digital viewing behaviors, and early extrafoveal retinal structural variation.

PURPOSE:To evaluate longitudinal structure-function relationships of reticular pseudodrusen (RPD) subtypes and their interaction with soft drusen (SD) on retinal sensitivity (RS) in intermediate age-related macular degeneration (AMD). DESIGN:Retrospective cohort study. SUBJECTS:Forty-six eyes of 28 patients diagnosed with intermediate AMD or RPD who underwent microperimetry at two time points 6 to 12 months apart. METHODS:RPD presence and subtype (dot or ribbon) and SD were assessed individually at each of 37 Early Treatment Diabetic Retinopathy Study grid test points on co-registered multimodal imaging. Linear mixed-effects models estimated baseline RS and its change by drusen composition, with test-point location as a fixed effect and adjustment for clinical covariates, plus baseline RS for the change analysis. MAIN OUTCOME MEASURES:Change in RS over follow-up and baseline RS, according to drusen composition. RESULTS:At baseline, ribbon-type RPD regions showed lower RS than lesion-free regions (mean difference 0.72 ± 0.24 dB, P = .002), whereas dot-type RPD did not differ (P = .120); SD was independently associated with reduced RS (P = .021). No baseline RPD subtype × SD interaction was observed. Longitudinally, a significant interaction was found (P = .005): regions with both ribbon-type RPD and SD showed the greatest RS decline, whereas RPD subtypes did not differ without SD (all P > .9). CONCLUSIONS:The functional impact of RPD varies by subtype and coexistence with SD. Ribbon-type RPD is associated with greater RS impairment, particularly when combined with SD, highlighting the importance of lesion phenotype in functional risk assessment.

Purpose:To assess postoperative head positioning behavior and estimate gas-retinal lesion contact after vitrectomy using a wearable accelerometer-based monitoring system and geometric modeling. Methods:This study enrolled 56 patients who underwent pars plana vitrectomy between November 2024 and June 2025. Of these, 28 were prescribed prone positioning for 1 week and 28 received no postural instruction. A custom-designed eyeshield equipped with a triaxial accelerometer continuously recorded three-dimensional (3D) head orientation at 5-second intervals for 7 days. A geometric model integrating gas volume dynamics, lesion location, and head orientation was used to estimate time-resolved gas-lesion contact. Results:Prone compliance averaged 49.8% ± 4.3% and declined over the week; gas-lesion contact averaged 90.5% ± 2.1% and likewise decreased, being lower at night. Gas-lesion contact averaged 92.9% ± 2.5% in single-tear rhegmatogenous retinal detachment (RRD) cases and 88.1% ± 3.2% in non-RRD cases including macular hole. Gas-lesion contact increased with prone compliance and with octafluoropropane (C3F8) compared with sulfur hexafluoride (SF6). Patient self-report questionnaires indicated greater perceived burden in the prone group, affecting sleep quality. Conclusions:We established a quantitative framework to assess postural behavior and estimate lesion-specific gas contact in the early postoperative period. SF6 tamponade required strict adherence to maintain adequate gas-lesion contact, whereas C3F8 provided more consistent coverage despite variable compliance. These findings may inform postoperative patient counseling and tamponade selection. Translational Relevance:By integrating week-long vector-based monitoring and 3D visualization of real-world head posture with a generalized model that estimates gas-lesion contact at any retinal location, this study provides quantitative metrics that directly inform postoperative positioning and tamponade choice.

Objective:To investigate vertical hemispheric asymmetry of the outer retinal structure using structural and functional parameters in patients with retinitis pigmentosa (RP) and assess its association with genotype and age. Design:A retrospective observational study. Participants:We analyzed 928 eyes from 496 patients with advanced RP at a single tertiary center. Methods:We measured hemispheric asymmetry of the outer retinal structure using a fully automated deep learning pipeline for segmenting the ellipsoid zone (EZ) from volume scan images obtained by spectral-domain OCT. Additionally, we evaluated the visual field asymmetry with a custom algorithm to quantify field angles assessed using Goldmann perimetry across 24 meridians. We assessed hemispheric asymmetries using linear mixed-effects models and performed subgroup analyses to determine whether the asymmetry was associated with genotype and age. Further, we modeled longitudinal changes in EZ area using exponential decline. Main Outcome Measures:Superior and inferior hemispheric preservation of the EZ area (mm2) and Goldmann perimetry angle (°), as well as their respective superior-to-inferior (sup/inf) ratios. Results:At the initial presentation, the superior EZ area was significantly larger than the inferior area (3.47 ± 0.11 mm2, mean ± standard error of mean, 95% confidence interval [CI]: 3.26 mm2-3.68 mm2 vs. 2.86 ± 0.09 mm2, 95% CI: 2.69 mm2-3.03 mm2; P < 0.001), yielding a mean superior-to-inferior ratio of 1.33 ± 0.03 (95% CI: 1.26-1.40). We observed the most pronounced asymmetry in eyes with EYS variants (1.93 ± 0.21, 95% CI: 1.51-2.34). Visual field analysis demonstrated an average inferior-to-superior visual field ratio of 1.23 ± 0.02 (95% CI: 1.19-1.27), indicating inferior hemifield dominance (P < 0.001). Age-stratified analysis revealed significantly greater relative preservation of the superior EZ area in older age groups (P = 0.040). The rate of annual loss of EZ area was 11.13 ± 0.58% (95% CI: 9.99%-12.27%) in a longitudinal subset of 725 eyes. Conclusions:Patients with RP consistently exhibited vertical hemispheric asymmetry of the outer retinal structure, with superior dominant structural and inferior dominant visual field preservation. This spatially polarized pattern represents a novel characteristic of RP and provides new insights into the regional vulnerability of photoreceptors. Financial Disclosures:The authors have no proprietary or commercial interest in any materials discussed in this article.

To develop and evaluate a deep-learning model for automated segmentation of myopic atrophic lesions on ultra-widefield (UWF) fundus images and to evaluate the effects of training-set size and color representation on segmentation performance. This study included 500 UWF images from highly myopic eyes with manually delineated myopic atrophic lesions. Independent training subsets of 50, 100, 200, 300, 400, and 500 images were constructed using a patient-level sampling strategy. For each subset size and color-space configuration (RGB, CIELAB, and luminance-only), models were trained 10 times with different random seeds. Segmentation performance was evaluated using the Dice coefficient and intersection-over-union (IoU). The effects of training-set size and color space were assessed using linear mixed-effects models, and performance variability was evaluated using Levene’s test. Training-set size significantly influenced segmentation performance (p < 0.001). RGB and CIELAB inputs performed comparably, whereas luminance-only input showed modestly lower Dice and IoU than RGB input. Model performance improved with increasing dataset size, with progressively smaller improvements beyond approximately 300–400 images. The U-Net++ model in the primary experiment trained on 500 images achieved a mean Dice coefficient of 0.860 ± 0.006 and a mean IoU of 0.754 ± 0.009, demonstrating stable and reproducible convergence across runs. Deep-learning-based segmentation of myopic atrophic lesions on UWF images is feasible. Performance gains became progressively smaller beyond approximately 300–400 annotated images under the present experimental conditions. RGB and CIELAB inputs showed comparable performance, whereas removal of chromatic information in the luminance-only condition was associated with modestly lower performance. These findings may inform efficient dataset design for quantitative UWF imaging analysis in highly myopic eyes and provide a methodological foundation for longitudinal investigation of lesion enlargement, risk-factor analysis, and spatial progression of pathologic myopia.

This study aimed to investigate the value and difference in predictive performance between ophthalmologists and a previously developed and validated artificial intelligence (AI) model, and to evaluate how AI assistance influences expert decision-making in reliably assessing recurrence prediction of neovascular age-related macular degeneration (nAMD) after anti-vascular endothelial growth factor (VEGF) treatment. 19 experts (nine retinal specialist ophthalmologists and ten non-retinal specialist ophthalmologists) predicted the first recurrence of nAMD within three months based on optical coherence tomography (OCT) images and clinical information. Predictions were made in five sessions with increasing information availability. The AI model used in this study had been developed and validated in our earlier work, and it predicted recurrence using baseline and after the loading phase OCT images. We compared the area under the receiver operating characteristic curve (AUROC), Fleiss’ kappa, and Delong’s test between expert groups and the AI algorithm. The study included 149 eyes of 130 patients. The AI model achieved an AUROC of 0.744 (95% confidence interval, 0.665–0.822). Expert performance improved across sessions, with AUROCs ranging from 0.562 ± 0.034 to 0.679 ± 0.049. No significant differences were observed between expert groups based on experience or subspecialty. AI-supported decisions showed slightly improved performance in predicting nAMD recurrence compared to human experts, regardless of clinical experience. These results suggest the potential of AI-assistance in predicting recurrence and optimizing treatment strategies for nAMD, which could significantly improve patient counseling and management. This study also highlights the novel contribution of evaluating the impact of AI assistance on ophthalmologists’ decision-making in nAMD recurrence prediction.

ABSTRACTBackgroundLeber congenital amaurosis (LCA), the most severe form of inherited retinal dystrophy, is a rare, heterogeneous, genetic eye disease associated with severe congenital visual impairment. RPE65, one of the causative genes for LCA, encodes retinoid isomerohydrolase, an enzyme that plays a critical role in regenerating visual pigment in photoreceptor cells.MethodsExome sequencing (ES) was performed on a patient with suspected LCA.ResultsHere, we report a 33‐year‐old male patient diagnosed with RPE65‐related LCA caused by uniparental isodisomy (UPiD) who received gene therapy as treatment, fourth patient to receive it in Korea. His fundus examinations showed salt‐and‐pepper retinal dystrophy, with diffuse extinguished signal on fundus autofluorescence and attenuated amplitude on electroretinogram. A homozygous frameshift variant NM_000329.3:c.1067del (p.Asn356MetfsTer17) in RPE65 was identified by ES with the entire chromosome 1 proving to be paternal UPiD. Within 5 months after the molecular diagnosis, the patient was treated with subretinal voretigene neparvovec (VN) therapy and is being followed up for prognosis.ConclusionsTo our knowledge, this patient is the first UPiD case to receive VN treatment. Performing ES as a first‐tier test was favourable because it allowed to identify UPiD that needed to be detected in addition to the disease‐causing variant.

Purpose: Although the exact pathogenesis of central serous chorioretinopathy (CSC) remains unclear, some factors are known to be sex-specific. We aimed to investigate the incidence and systemic associations for CSC in women. Methods: This population-based nested case-control study included East Asian women whose medical claims data were obtained from the Korean National Health Insurance Service database. Patients newly diagnosed with CSC between 2017 and 2019 were assigned to the CSC group and matched to healthy controls in a 1:4 ratio by age, gender, and index date. The incidence of CSC in women and its association with gynecologic comorbidities and corticosteroid use before the index date (2008-2017) were analyzed. Results: The study matched 3,789 patients with CSC with 15,156 controls. The 3-year cumulative incidence of CSC in women was 27.13 (95% confidence interval [CI], 27.06-27.19) per 100,000 people. Multivariate logistic analysis showed a significantly increased association of CSC in patients with pre-eclampsia (adjusted odds ratio, 2.66; 95% CI, 1.86-3.81) (P < 0.001), endometriosis (adjusted odds ratio, 1.19; 95% CI, 1.03-1.38) (P < 0.001), steroid injections alone (adjusted odds ratio, 1.29; 95% CI, 1.16-1.43) (P < 0.001), and combination use of oral and injected steroid (adjusted odds ratio, 1.34; 95% CI, 1.23-1.47) (P < 0.001) compared with the controls. Conclusion: This study provides nationwide population-based data on the incidence of CSC in Asian women and suggests that exposure to specific gynecological comorbidities and intensive corticosteroid use are associated with the development of CSC in women.

This retrospective study aimed to assess the impact of subretinal drusenoid deposit (SDD), also known as reticular pseudodrusen, on retinal sensitivity (RS) in patients with intermediate age-related macular degeneration (iAMD) using microperimetry. Eyes meeting the modified criteria of iAMD, including SDD, and total drusen area greater than 0.50 mm2 were included. The presence of SDD, as well as soft drusen (SD), and specific type of SDD (dot or ribbon) were determined through multimodal imaging modalities including fundus photography, fundus autofluorescence, infrared reflectance image and optical coherence tomography. RS was measured using MAIA microperimetry. A total of 302 eyes from 302 patients were analyzed. Patients with SDD were older and predominantly female. Average RS was significantly lower in eyes with SDD than without SDD. (19.75 (5.06) vs. 21.21 (4.53) (average (SD)), P = 0.003). The presence of SD alone did not significantly affect RS. Among eyes with SDD, those with ribbon-type SDD exhibited significantly lower RS (18.02 ± 6.49) than those with dot-type SDD (20.67 ± 4.13; P < 0.001). In multivariable linear regression analysis, older age and the presence of ribbon-type SDD were significantly associated with reduced RS. In conclusion, eyes with iAMD and SDD demonstrate reduced RS, with ribbon-type SDD exerting a greater negative impact on retinal function than dot-type SDD.