Search Results (173)

Twenty causative genes have been reported that cause non-syndromic childhood glaucoma associated with anterior segment dysgenesis. FOXC1, PAX6 and PITX2 are the most well-known, but cases linked to SLC4A11, PITX3 and SOX11 have also been reported. As genetic testing becomes increasingly widespread and rates of molecular diagnosis rise, the extent of phenotypic overlap between the different genetic causes of non-syndromic glaucoma associated with anterior segment dysgenesis is becoming more evident. Taking aniridia as an example, whilst PAX6 mutations remain the predominant cause, variants in CYP1B1, FOXC1, PXDN and SOX11 have also been reported in patients with childhood glaucoma and aniridia. Developments in molecular-based therapies for retinal and corneal disease are advancing rapidly, and pre-clinical studies of gene-based treatments for glaucoma and aniridia are showing promising results. Use of adeno-associated viral vectors for gene delivery is most common, with improvements in intraocular pressure and retinal ganglion cell survival in Tg-MYOC^Y437H mouse models of glaucoma, and successful correction of a germline PAX6^G194X nonsense variant in mice using CRISPR-Cas9 gene editing. This review will explore the actions and interactions of the genetic causes of non-syndromic glaucoma associated with anterior segment dysgenesis and discuss the current developments in molecular therapies for these patients. Full article

Background: This prospective observational study was conducted to systematically assess immediate changes occurring (within one hour) in corneal endothelial cell morphology and anterior segment parameters following Nd:YAG laser posterior capsulotomy in pseudophakic patients and to analyze the correlation between these changes and laser energy parameters. Methods: A single-arm, within-subject pre–post design was employed to evaluate corneal endothelial morphology (cell density, count, area, coefficient of variation and hexagonal percentage) and anterior chamber parameters (depth, angle, volume) before and one hour after the procedure using specular microscopy and Pentacam analysis. Patient demographics (age), clinical parameters (best corrected visual acuity and intraocular pressure), postoperative-YAG laser interval, and laser energy parameters (energy per shot, pulse count, and total applied energy) were also documented. Results: Thirty-two pseudophakic patients (mean age 56.3 ± 19.2 years) underwent Nd:YAG laser posterior capsulotomy with mean energy per shot of 3.15 ± 1.07 mJ and pulse count of 34.3 ± 20.4. Specular microscopy revealed significant post-procedural decreases in endothelial cell density (2184.05 to 2057.2 cells/mm²; p = 0.006) and increases in average cell area (529.25 ± 242.72 to 587.75 ± 281.09 µm²; p = 0.004) and minimum cell area (199.3 ± 170.62 to 248.35 ± 202.7 µm²; p = 0.035). Corneal topography also decreased significantly in the anterior chamber angle (40.07 ± 10.34 to 35.42 ± 6.78 degrees; p = 0.048), with positive correlations between energy per shot and endothelial cell density (r = 0.557; p = 0.011) and average cell area (r = 0.544; p = 0.013). Conclusions: This study demonstrates that Nd:YAG laser capsulotomy causes immediate, energy-dependent alterations in corneal endothelial density and anterior chamber parameters within one hour post-procedurally. The identification of energy per shot as a key determinant represents a preliminary observation for optimizing laser parameters and reducing potential complications in pseudophakic patients. Full article

Objectives: To assess the anatomical lens position (ALP) predictability for a capsulotomy-fixated intraocular lens (IOL; FEMTIS FB-313, Teleon Surgical B.V) versus an intracapsular IOL (TECNIS 1-Piece, ZCB00V, Johnson & Johnson) implanted for age-related cataracts. Methods: Pre- and 3-month postoperative measurements from optical biometry and swept-source anterior segment OCT were analyzed. The lens position (i.e., postoperatively, ALP) was defined as the distance between the corneal endothelium and the lens equator. Multivariate linear mixed-effects models assessed the influence of preoperative biometric parameters on ALP, prediction error (PE), and absolute PE (AbsPE). Results: A total of 45 FEMTIS eyes from 32 patients and 26 TECNIS eyes from 18 patients were included. Postoperatively, the anterior chamber depth (ACD) increased by 1.10 mm in FEMTIS eyes and 1.66 mm in TECNIS eyes, while the lens position decreased by 0.59 mm and 0.34 mm, respectively. ACD and lens thickness (LT) were the strongest ALP predictors (ACD: β = +0.70, p < 0.0001; LT: β = +0.37, p < 0.0001). Separate multivariate models demonstrated strong predictive performance, with the FEMTIS achieving R² = 0.92 and the TECNIS IOL performing even better with R² = 0.97. In the FEMTIS group, LT influenced the PE (p = 0.006) and ACD the AbsPE (p = 0.005). In the TECNIS group, ACD influenced the PE (p < 0.0001), while AbsPE was not significantly affected by biometric parameters or formulas. Conclusions: ALP can be reliably predicted from standard biometric data, although less accurately for the FEMTIS IOL. Its anterior capsulotomy fixation likely compromises refractive accuracy with formulas inherently designed and optimized for in-the-bag IOLs, emphasizing the need for fixation-specific formula adjustments and dedicated optimization in capsulotomy-fixated IOLs. Full article

We evaluated the clinical applications of artificial intelligence models in diagnosing corneal diseases, highlighting their performance metrics and clinical potential. A systematic search was conducted for several disease categories: keratoconus (KC), Fuch’s endothelial corneal dystrophy (FECD), infectious keratitis (IK), corneal neuropathy, dry eye disease (DED), and conjunctival diseases. Metrics such as sensitivity, specificity, accuracy, and area under the curve (AUC) were extracted. Across the diseases, convolutional neural networks and other deep learning models frequently achieved or exceeded established diagnostic benchmarks (AUC > 0.90; sensitivity/specificity > 0.85–0.90), with a particularly strong performance for KC and FECD when trained on consistent imaging modalities such as anterior segment optical coherence tomography (AS-OCT). Models for IK and conjunctival diseases showed promise but faced challenges in heterogeneous image quality and limited objective training criteria. DED and tear film models benefited from multimodal data yet lacked direct comparisons with expert clinicians. Despite high diagnostic precision, challenges from heterogeneous data, a lack of standardization in disease definitions, imaging acquisition, and model training remain. The broad implementation of artificial intelligence must address these limitations to improve eye care equity. Full article

Objectives: To evaluate the safety and efficacy of the simultaneous implantation of a monofocal capsular bag-fixated and a trifocal supplementary sulcus-fixated intraocular lens (duet procedure) in eyes with co-existing pathologies undergoing cataract or refractive lens surgery. Methods: In total, 80 eyes of 40 consecutive patients, who underwent refractive lens exchange or cataract surgery and received the duet procedure due to minor co-pathologies, were included in this retrospective case series. Preoperative assessment comprised slit-lamp biomicroscopy, optical biometry, posterior-segment optical coherence tomography, corneal endothelial specular microscopy, corneal tomography, manifest refraction and distance and near visual acuity testing. Three months postoperatively, uncorrected distance (UDVA) and uncorrected near visual acuity (UNVA) were recorded. Results: The preoperative manifest refractive spherical equivalent (MRSE) was −0.31 ± 4.29 diopters (D), with a mean refractive astigmatism of −0.80 ± 0.60 D. At three months postoperatively, monocular UDVA and binocular UNVA significantly improved from 0.52 ± 0.42 logMAR and 0.32 ± 0.27 logMAR to 0.05 ± 0.09 logMAR and −0.03 ± 0.10 logMAR, respectively (both p < 0.0001). Conclusions: Reversible multifocality provided by the duet procedure appears to be a feasible option in eyes with mild co-existing pathologies, as it yields satisfactory visual and refractive outcomes with high safety. Full article

Objectives: This study evaluated the therapeutic potential of topical Ripasudil hydrochloride hydrate in managing various forms of corneal edema. Methods: This retrospective study included 96 patients of 72.20 ± 10.52 years, with 53 females (55.2%) who were treated with Ripasudil for corneal edema, with a mean treatment duration of 5.2 ± 2.3 months, divided into four groups: post-cataract surgery (n = 32), Fuchs endothelial corneal dystrophy (FECD; n = 29), post-Descemet membrane endothelial keratoplasty (DMEK; n = 25), and post-penetrating keratoplasty (PKP; n = 10). All patients were treated with Ripasudil, typically administered three times daily in the first week and twice daily in the following months. Clinical efficacy outcomes were assessed using changes in best-corrected visual acuity (BCVA), central corneal thickness (CCT), and endothelial cell count (ECC) with specular microscopy, anterior segment optical coherence tomography (OCT), and slit-lamp examination, while intraocular pressure (IOP) was measured using the iCare tonometer. Results: Ripasudil treatment led to a reduction in CCT and improvement in visual acuity across most groups, with minimal changes in ECC. CCT decreased by 30.44 μm (p < 0.001), 25.56 μm (p < 0.001), 8.41 μm (p = 0.05), and 6.80 μm (p > 0.1); visual acuity improved by 0.27 (p = 0.001), 0.18 (p = 0.02), 0.17 (p = 0.025), and 0.07 logMAR units (p > 0.1); and ECC changed by +7.0 (p > 0.1), 15.4 (p > 0.1), −7.6 (p > 0.1), and 2.3 cells/mm² (p > 0.1) in the post-cataract surgery, FECD, post-DMEK, and post-PKP groups, respectively. Conclusions: No adverse events or progression of edema were recorded during the follow-up period. These findings support the role of Ripasudil as a non-invasive pharmacological approach to managing corneal edema and delaying or possibly avoiding surgical interventions, such as corneal transplantation, in selected cases. Full article

Background: Patients with primary angle-closure disease (PACD), those with no history of acute angle-closure glaucoma or laser iridotomy, rarely present with prominent corneal endothelial cell density (CECD) loss. To identify factors associated with decreased CECD in PACD, anterior segment parameters were compared in patients with PACD and normal CECD and patients with PACD and decreased CECD, using anterior segment optical coherence tomography (AS-OCT). Patients and Methods: Ten patients with PACD and CECD of less than 1500/mm² without a history of cataract surgery, acute angle-closure glaucoma, or prior laser glaucoma procedures were identified at the Kyorin Eye Center from January 2018 to July 2023. Patients with an obvious corneal guttata or apparent corneal edema were also excluded. Seventeen patients with PACD and normal CECD (normal CECD group) were used as the control. Simultaneous biometry of all anterior segment structures, including the cornea, anterior chamber, and iris, were assessed using a swept-source AS-OCT system. Results: Corneal curvature radius was significantly larger in the decreased CECD group compared with the corneal refractive power in the normal CECD group (p = 0.022, Mann–Whitney test). However, no significant differences were detected in other anterior segment morphology parameters. Multiple regression analysis with CECD as the dependent variable revealed that a large corneal curvature radius was a significant explanatory variable associated with corneal endothelial loss. Conclusions: Flattened corneal curvature may be a risk factor for corneal endothelial loss in patients with PACD. Full article

Corneal sensitivity is an important indicator of corneal health and innervation. Corneal hypoesthesia may be an early indicator of corneal diseases such as neurotrophic keratopathy. Various instruments have been used to measure corneal sensitivity, the first being the Cochet–Bonnet aesthesiometer. Over the years, new devices employing different stimuli have been developed, such as the gas-based Belmonte aesthesiometer, the Swiss liquid-jet aesthesiometer, and the most recently released corneal Brill aesthesiometer. In this review, the progress and advancement of aesthesiometers since their introduction is described. The mechanism, advantages, and disadvantages of these aesthesiometers are discussed and compared. We also report the relationship between corneal sensitivity and corneal innervation in various conditions, including diabetes mellitus, Fuchs’ endothelial dystrophy, dry eye disease, glaucoma, keratoconus, herpes simplex keratitis, post-refractive surgery, and ocular graft-versus-host disease. Through this review, we aim to highlight the importance of the assessment of corneal sensitivity and innervation in the diagnosis, treatment, and monitoring of anterior and posterior segment ocular disorders. Full article

Peters anomaly (PA) is a rare congenital disorder within the anterior segment dysgenesis (ASD) spectrum, characterized by corneal opacity, iridocorneal adhesions, and potential systemic involvement. The genetic basis of PA and related syndromes are complex and incompletely understood. This study investigates novel genetic variants and their clinical impact in two unrelated individuals diagnosed with PA spectrum disorder. Whole-exome sequencing (WES), long-range PCR, and breakpoint analysis were applied to identify pathogenic variants. In the first patient, a heterozygous ~1.6 Mb deletion was detected, spanning the genes PEX2 and ZFHX4 (GRCh37 chr8:g.76760782_78342600del). The second patient carried a heterozygous FOXC1 variant (NM_001453.3:c.310A>G), classified as likely pathogenic. Both variants were confirmed by Sanger sequencing and considered de novo, as they were not present in the biological parents. Clinical evaluations revealed phenotypic variability, with the first patient displaying both ocular and systemic anomalies as in a Peters plus-like syndrome phenotype, while the second patient had isolated ocular manifestations as in a PA type 1 phenotype. These findings expand the genetic landscape of PA, underscoring the importance of comprehensive genomic analysis in subclassifying ASD disorders. Further studies are needed to elucidate the functional consequences of these variants and improve diagnostic and therapeutic strategies. Full article

Objective: To conduct a comparative analysis of layer-by-layer macular thickness, peripapillary retinal nerve fiber layer (pRNFL), and minimum rim width (MRW) between the eyes of patients with prostate cancer undergoing treatment with androgen receptor pathway inhibitors (ARPIs) and those of age- and sex-matched healthy controls, with the aim of assessing the potential effects of ARPIs on retinal structure. Methods: In this prospective cross-sectional study, 80 eyes of 80 patients with ARPI-treated metastatic prostate cancer and 80 eyes of 80 age-matched healthy controls were evaluated using Heidelberg Spectralis optical coherence tomography (OCT). Layer-by-layer macular thickness, pRNFL, and MRW were measured and compared between groups. Results: Thickness in most segments of retinal layers and pRNFL, as well as all MRW values, were significantly lower in the ARPI-treated group than in the controls (p < 0.05). No significant differences were observed between groups in terms of age, visual acuity, intraocular pressure, central corneal thickness, or lens status. Conclusions: This study is the first to evaluate layer-by-layer macular thickness in patients with metastatic prostate cancer treated with ARPIs, revealing significant thinning in nearly all macular layers, pRNFL, and MRW. These findings suggest that ARPI therapy may induce neurodegenerative changes in retinal and optic nerve structures. Therefore, further research is warranted to assess the ocular safety of these therapeutic agents. Full article

Keratoconus is a progressive corneal disorder that causes thinning and irregular astigmatism, often leading to significant visual impairment. In the advanced stages, surgical interventions are necessary to restore corneal shape, improve vision, and enhance contact lens tolerance. Intracorneal ring segments (ICRSs) have emerged as a well-established, minimally invasive option that not only improves vision but also has the potential to delay or prevent the need for corneal transplantation in advanced cases. Recent advancements in the ICRS implantation techniques, patient selection, and femtosecond laser technology have significantly improved the precision and safety of these procedures, reducing complications. The ability to customize the ring parameters—such as thickness, arc length, and positioning—enables a more individualized approach, particularly for patients with irregular astigmatism. Artificial intelligence (AI) is also emerging as a promising tool for optimizing ICRS planning and improving patient outcomes. Although still in the early stages, AI algorithms may refine the treatment strategies by analyzing large datasets, improving the patient selection, and predicting long-term outcomes. Corneal Allogenic Intrastromal Ring Segments (CAIRSs) offer a novel alternative to synthetic ICRSs, with advantages like improved biocompatibility and reduced extrusion risk. However, CAIRSs remain an evolving technique that requires further refinement and long-term evaluation to determine the tissue integration, the durability of the refractive outcomes, and the potential for late-onset complications. In conclusion, ICRSs continue to be a safe and effective option for managing advanced keratoconus. Ongoing refinement of the surgical approaches—combined with advancements such as femtosecond laser technology and the integration of AI—will ensure that both ICRSs and CAIRSs remain key components in the therapeutic arsenal for keratoconus, offering sustained visual improvements and the potential to delay or avoid corneal transplantation. Full article

Background: This study introduces a novel quantitative method—groove loss time (GLT)—to objectively assess wound leakage following cataract surgery. Methods: In this prospective, single-center study, 70 eyes of 70 patients undergoing cataract surgery via CCI were enrolled. Wound sealing was evaluated by measuring the GLT, defined as the duration the stromal groove remains visible after corneal hydration. GLT was categorized into five grades: ‘water-tight’ (>10 s), ‘excellent’ (>5 s), ‘good’ (3–5 s), ‘bad’ (1–2 s), and ‘poor’ (<1 s). Intraocular pressure (IOP) was recorded at four time points: preoperatively, immediately post-surgery, 3–4 h postoperatively, and on postoperative day one. In select cases, anterior segment optical coherence tomography (AS-OCT) was used to confirm wound architecture. Results: All patients demonstrated a GLT longer than 5 s, corresponding to water-tight or excellent wound sealing. Mean IOP values were 16.08 ± 3.61 mmHg preoperatively, 29.48 ± 11.13 mmHg immediately post-surgery, 16.38 ± 5.45 mmHg at 3–4 h, and 16.65 ± 4.36 mmHg on the day after surgery. No cases of postoperative endophthalmitis, anterior chamber loss, or hypotony were observed. Conclusions: The GLT method provides a simple, objective, and effective tool for evaluating wound integrity in CCIs, ensuring optimal sealing and enhancing postoperative safety. Full article

Background and Objectives: Descemet stripping automated endothelial keratoplasty (DSAEK) is a widely used surgical technique for treating corneal endothelial dysfunctions such as Fuchs endothelial corneal dystrophy (FECD) and pseudophakic bullous keratopathy (PBK). This study aimed to investigate the association between postoperative visual acuity and various corneal morphological and optical parameters, including corneal densitometry (CD) and higher-order aberrations (HOAs), measured using the Pentacam (OCULUS Optikgeräte GmbH, Wetzlar, Germany), as well as graft thickness, which was assessed by anterior segment optic coherence tomography (AS-OCT), (Optovue Inc., Fremont, CA, USA), and corneal thickness, assessed by both AS-OCT and Pentacam. Materials and Methods: This prospective, observational cohort study included 17 eyes from 13 patients who underwent DSAEK. Data on preoperative visual acuity were collected, while postoperative parameters were assessed during follow-up visits. Corneal measurements included the total corneal and corneal graft thickness, corneal densitometry in 20 defined subregions, and corneal higher-order aberrations. Associations between these parameters and postoperative visual acuity were evaluated using nonparametric statistical tests. Results: The postoperative visual acuity improved significantly (p < 0.001). Strong correlations were found between poorer visual acuity and higher CD values. The strongest correlations with visual acuity were found for CD 2–6 mm total (Rho = 0.795; p < 0.001), CD central 2–6 mm (Rho = 0.791; p < 0.001), and CD central 0–2 mm (Rho = 0.730; p < 0.001). Significant associations were also observed with anterior and posterior HOAs (Rho = 0.624, p = 0.01; and Rho = 0.556, p = 0.02, respectively). No correlation was found between visual outcomes and graft thickness measured by AS-OCT (Rho = 0.051; p = 0.85), nor with total corneal thickness measured by AS-OCT (Rho = −0.227; p = 0.38) or Pentacam (Rho = −0.369; p = 0.14). Conclusions: This study demonstrates that CD and HOAs are more strongly associated with postoperative visual acuity after DSAEK than traditionally monitored parameters such as graft or corneal thickness. The results highlight the value of detailed corneal imaging and support the use of advanced optical diagnostics in postoperative evaluation. Full article

Purpose: Pickleball, the fastest-growing sport in the United States, has seen a rapid increase in participation across all age groups, particularly among older adults. However, the sport introduces specific risks for ocular injuries due to the unique dynamics of gameplay and the physical properties of the pickleball. This study aims to explore the mechanisms of pickleball-related eye injuries, utilizing finite element modeling (FEM) to simulate ocular trauma and better understand injury mechanisms. Methods: A multi-modal approach was employed to investigate pickleball-related ocular injuries. Finite element modeling (FEM) was used to simulate blunt trauma to the eye caused by a pickleball. The FEM incorporated detailed anatomical models of the periorbital structures, cornea, sclera, and vitreous body, using hyperelastic material properties derived from experimental data. The simulations evaluated various impact scenarios, including changes in ball velocity, angle of impact, and material stiffness, to determine the stress distribution, peak strain, and deformation in ocular structures. The FEM outputs were correlated with clinical findings to validate the injury mechanisms. Results: The FE analysis revealed that the rigid, hard-plastic construction of a pickleball results in concentrated stress and strain transfer to ocular structures upon impact. At velocities exceeding 30 mph, simulations showed significant corneal deformation, with peak stresses localized at the limbus and anterior sclera. Moreover, our results show a significant stress applied to lens zonules (as high as 0.35 MPa), leading to potential lens dislocation. Posterior segment deformation was also observed, with high strain levels in the retina and vitreous, consistent with clinical observations of retinal tears and vitreous hemorrhage. Validation against reported injuries confirmed the model’s accuracy in predicting both mild injuries (e.g., corneal abrasions) and severe outcomes (e.g., hyphema, globe rupture). Conclusions: Finite element analysis provides critical insights into the biomechanical mechanisms underlying pickleball-related ocular injuries. The findings underscore the need for preventive measures, particularly among older adults, who exhibit age-related vulnerabilities. Education on the importance of wearing protective eyewear and optimizing game rules to minimize high-risk scenarios, such as close-range volleys, is essential. Further refinement of the FEM, including parametric studies and integration of protective eyewear, can guide the development of safety standards and reduce the socio-economic burden of these injuries. Full article

Objectives: Intraocular lens dislocation is a well-recognized complication of cataract surgery, necessitating secondary interventions such as retropupillary iris-claw IOL implantation. While effective, this procedure requires larger incisions that may induce significant astigmatism. This study aimed to (1) evaluate anterior chamber changes following retropupillary ICIOL implantation and (2) compare surgically induced astigmatism between corneal and scleral incision techniques. Methods: In this prospective cohort study, patients with IOL dislocation underwent 25-gauge pars plana vitrectomy with ICIOL implantation. Anterior chamber depth, volume, and angle configuration were measured across 12 meridians preoperatively, at 1–1.5 months (short-term), and 5–6 months (long-term). Surgically induced astigmatism was compared between the corneal and scleral incision groups. Statistical analysis included Shapiro–Wilk, Mann–Whitney U, and repeated-measures ANOVA tests. Results: This prospective study included 40 patients (22 females, 18 males) with a mean age of 76.3 ± 5.38 years (range 65–86). Significant reductions in ACD and ACV occurred postoperatively (p < 0.05), with partial recovery at long-term follow up. Surgically induced astigmatism was markedly higher with corneal incisions versus scleral approaches (p < 0.01 short term; p < 0.05 long term). Anterior chamber angle changes varied by meridian but stabilized by 6 months. Conclusions: Retropupillary ICIOL implantation induces predictable anterior segment remodeling, with scleral incisions offering superior refractive stability. Surgical planning should prioritize scleral techniques to minimize surgically induced astigmatism while maintaining anatomical efficacy. Future innovations in IOL design may further reduce incision-related complications. Full article