Sturge-Weber syndrome (SWS) is a rare form of neurocutaneous disorder characterized by the involvement of neurologic, cutaneous and ocular problems. Among all SWS-related ocular abnormalities, glaucoma is the most common complication with a bimodal onset time. The occurrence of gene mutations in GNAQ has been identified as a cause of SWS. Recent studies have indicated that macrophages and mutations in GNA11 or GNB2 are also involved in the pathogenesis of SWS. Different mechanisms such as elevated episcleral venous pressure and focal venous hypertension can result in SWS secondary glaucoma (SG). In addition to glaucoma-related manifestations, SG may be associated with the typical site of facial port-wine birthmarks, choroidal vascular malformation and other ocular features. Medication and surgery are still the mainstay for SG. ROCK inhibitors have shown good performance in the control of intraocular pressure in SG but have not been verified in large sample populations. Due to the anatomical abnormalities, the incidence of surgical complications is higher. Non-penetrating surgical procedures, known for their safety and hypotensive characteristics, may be preferable instead. In general, the treatment of SG is a challenging undertaking. Early detection and treatment are crucial to preserve the visual function of patients with SWS. This review provides an overview of its pathogenesis, clinical manifestations, therapeutic agents, surgeries, and recent advances in the field of SG. The aim is to offer the latest perspectives and insights for the understanding and diagnosis of this disease.

PurposeThis retrospective cohort study aims to investigate chromosomal aberrations in Southeast Asian (SEA) uveal melanoma (UM) patients, evaluate their impact on clinical outcomes, and compare findings with the TCGA-Uveal Melanoma (TCGA-UM) dataset to explore potential genetic differences.MethodsFormalin-fixed paraffin-embedded (FFPE) tumour samples from 20 UM patients diagnosed between 2004 and 2018 were initially analysed using the OncoScan™ CNV Array to detect chromosomal aberrations, with 14 samples yielding valid results for cytogenetic analysis. BAP1 immunohistochemistry was performed on all 20 samples to assess BAP1 protein expression using automated immunostaining techniques validated in the Clinical Pathology Laboratory of the Singapore General Hospital. Clinical data were retrospectively reviewed, and chromosomal aberration frequencies were compared with the TCGA-UM dataset.ResultsA total of 78 chromosomal gains, 48 losses, and two cases of copy-neutral loss of heterozygosity (CN-LOH) were identified. Compared to the TCGA-UM cohort, SEA patients exhibited a lower frequency of monosomy 3 (14% vs. 53%) and a higher incidence of chromosome 1q gains (20% vs. 6%). Gains in chromosome 1q were significantly associated (P = 0.0289) with shorter progression-free survival (PFS). In comparison, gains in chromosome 9q were correlated with longer PFS in SEA patients, a trend not observed in the TCGA-UM cohort. BAP1 loss was detected in 20% of cases and was associated with reduced survival rates, consistent with TCGA data.ConclusionsThis study highlights significant genetic differences between SEA and Western UM patients, particularly the lower incidence of monosomy 3 in SEA patients. This preliminary observation raises concerns about the reliability of using BAP1 loss alone, assessed through gene expression or immunostaining, as a sole marker for metastasis surveillance and risk stratification in Asian UM patients. These findings underscore the need for further research to determine whether additional genetic markers are required to improve prognostic accuracy in this population. Expanding molecular profiling in SEA would improve risk stratification and inform treatment strategies, while collaborative research with larger cohorts is essential to validate these findings and refine prognostic models globally.

BackgroundAcute acquired comitant esotropia (AACE) can significantly impair binocular vision, and its prevalence is increasing. This study aims to compare the effectiveness of botulinum toxin (BTX) injections with strabismus surgery in patients diagnosed with AACE and to investigate the factors predicting success.MethodsSixty AACE patients were included in this prospective comparative clinical study. Twenty-seven patients underwent incisional strabismus surgery (surgery group) and 33 patients received BTX injection (chemodenervation group). Patients were followed up visit at 1, 3, and 6 months post-treatment. The primary outcome was the success rate at 6 months post-treatment, defined as a horizontal deviation of 10 prism diopters (PD) or less with confirmed binocular single vision. Secondary outcomes included risk factors for the recurrence of AACE.ResultsThe present study included 27 patients in the surgery group and 33 in the chemodenervation group. No significant differences were observed in the motor success rate at 1 and 3 months post-treatment between the two groups. However, the surgery group had a significantly higher motor success rate compared to the chemodenervation group at 6 months post-treatment (100% vs. 69.7%, P < 0.001). The success rate of achieving stereopsis at near ≤ 100 arcsec in the chemodenervation group was significantly higher than in the surgery group at 1 month post-treatment (51.5% vs. 14.8%, P < 0.001). By the 6 months post-treatment, no significant differences were observed in sensory outcomes between the chemodenervation and surgery groups (P > 0.05 for all). In the chemodenervation group, patients with an anisometropia less than 1 dioptor (D)demonstrate significantly higher motor success rate, and better sensory outcomes, including stereopsis at near (84%, 21/25) and stereopsis at near ≤ 100 arcsec (56%, 14/25), compared to those with anisometropia of 1 D or more (P = 0.044).ConclusionThe success rate after BTX injection was similar to that of surgery for 3 months but lower at 6 months post-treatment. Patients who received BTX showed restoration of stereopsis within the initial first postoperative month, with sustained preservation of this function across 6 months post-treatment. Anisometropia of 1 D may indicate suitability for BTX injection as a preferred treatment option for AACE.Trial registration This study was registered on the Chinese Clinical Trial Registry (ChiCTR2100053717. Registered 28 November 2021. https://www.chictr.org.cn/showprojEN.html?proj=140975).

BackgroundTo investigate and compare the corneal denervation, tear neuromediators, and ocular surface changes following corneal lenticule extraction for advanced refractive correction (CLEAR) versus small incision lenticule extraction (SMILE).MethodsIn this randomized clinical trial, 19 patients were randomized to undergo CLEAR in one eye and SMILE in the other eye. Ocular surface assessments, in vivo confocal microscopy for seven corneal nerve parameters, four corneal dendritic cell parameters, three corneal epithelial parameters, and tear neuromediator analysis were performed preoperatively and 1, 3, 6 and 12 months postoperatively.ResultsThere were no significant differences in all ocular surface assessments between CLEAR and SMILE throughout postoperative 1 year. CLEAR and SMILE led to significant and comparable reductions of corneal nerve fiber density (CNFD), nerve branch density, total branch density, nerve fiber length, area, and fiber fractal dimension, which did not restore even at 1 year. The reduction in CNFD was significantly correlated with the corrected spherical equivalent in both surgical types. Although post-SMILE eyes had significantly higher nerve growth factor concentrations at 1 month, there was no significant difference in substance P and calcitonin gene-related peptide (CGRP) concentrations between SMILE and CLEAR.ConclusionsCLEAR and SMILE had comparable effects on ocular surface, corneal denervation and postoperative neuroinflammation. Corneal nerve metrics did not restore even at 1 year for both procedures.Trial registration number: ClinicalTrials.gov NCT06774651, registration on 14 January 2025, https://clinicaltrials.gov/study/NCT06774651.

BackgroundThis study investigated how clinical and genetic factors impact the effectiveness of orthokeratology lenses in myopia.MethodsA retrospective clinical study was conducted with a sample of 545 children aged 8–12 years who had myopia and have initially worn orthokeratology lenses for one year. Whole-genome sequencing (WGS) was also performed on 60 participants in two groups, one with rapid axial length (AL) progression of larger than 0.33 mm and the other with slow AL progression of less than 0.09 mm. The RetNet database was used to screen candidate genes that may contribute to the effectiveness of orthokeratology lenses in controlling myopia.ResultsChildren with greater baseline AL, greater spherical equivalent (SE) and greater age had better myopia control with orthokeratology lenses. A significant excess of nonsynonymous variants was observed among those with slow myopia progression, and these were prominently enriched in retinal disease-related genes. Subsequently, RIMS2 [odds ratio (OR) = 0.01, P = 0.0097] and LCA5 (OR = 9.27, P = 0.0089) were found to harbor an excess number of nonsynonymous variants in patients with slow progression of high myopia. Two intronic common variants rs36006402 in SLC7A14 and rs2285814 in CLUAP1 were strongly associated with AL growth. The identification of these novel genes associated with the effectiveness of orthokeratology lens therapy in myopic children provides insight into the genetic mechanism of orthokeratology treatment.ConclusionThe effectiveness of orthokeratology lens treatment relates to interindividual variability in the control of AL growth in myopic eyes. The efficacy increased when patients carried more nonsynonymous variants in retinal disease-related gene sets. These data serve as reference for genetic counselling and the management of patients who choose orthokeratology lenses to control myopia.

BackgroundTo present the iridectomy combined with posterior approach anterior chamber gas injection technique for the treatment of extensive Descemet’s membrane detachment (DMD), which is a novel surgical approach for the management of DMD after phacoemulsification.Case presentationThe surgical technique was performed on a 68-year-old female with a history of cataract phacoemulsification surgery and two times of anterior chamber gas injection to treat DMD. After creating a scleral tunnel at 4 o’clock of the limbus, the iris root in that direction was cut off. This was confirmed via an iris root incision indicating that the syringe needle entered the posterior chamber through the scleral tunnel. The anterior chamber was filled about 3/4 with 16% C3F8. After surgery, patients were required to maintain a supine position without pillows. One month post-surgery, the cornea was transparent, DMD had fully recovered, and the best corrected visual acuity improved to 20/20.ConclusionsThe iridectomy combined with a posterior approach anterior chamber gas injection technique can be used as an alternative surgical option for the management of extensive DMD in patients who have undergone several ineffective anterior chamber gas injection surgeries.

PurposeTo evaluate myopia control efficacy in myopic children wearing spectacle lenses with highly aspherical lenslets (HAL) for 5 years.MethodsThis is a randomized, double-masked extended trial. Myopic children aged 8 to 13 years who were originally allocated to the HAL group in the 2-year clinical trial. The HAL group underwent a 5-year assessment for myopia progression using cycloplegic spherical equivalent refraction (SER) and axial length (AL). An extrapolated single-vision spectacle lenses (ESVL) group was used as a control group. The 5-year myopia progression and axial elongation of the ESVL group was calculated based on the 2-year data from the single-vision spectacle lenses group in the same clinical trial, and the data for the following 3 years was estimated by assuming an annual reduction in SER by 9.7% and in AL by 15%. A generalized linear model approach was used to evaluate the treatment efficacy. The validity of the ESVL group was evaluated by comparing myopia progression in the first year of the 3-year estimates with a single-vision spectacle lenses (SVL2) group from a 1-year extended study of the same clinical trial.ResultsForty-three participants from the original HAL group completed the 5-year visit (74%). Five-year myopia progression [mean ± standard error (SE)] in the HAL group was − 1.27 ± 0.14 D. Compared with the ESVL (− 3.03 ± 0.18 D), myopia progression was − 1.75 ± 0.24 D less for the HAL group (P < 0.001). The mean AL elongation over 5 years was 0.67 ± 0.06 mm for the HAL group compared with 1.40 mm in the ESVL group (P < 0.001), AL elongation was slower by 0.72 ± 0.10 mm for the HAL group (P < 0.001). No significant differences were found for myopia (− 0.58 ± 0.04 D vs. − 0.56 ± 0.05 D) or AL elongation (0.28 ± 0.02 mm vs. 0.28 ± 0.02 mm) between the ESVL group and SVL2 group (PSER = 0.83; PAL = 0.93) in year 3.ConclusionsIn this 5-year study, HAL spectacles reduced the rate of myopia progression and axial elongation, preventing the equivalent of 3 years of myopia progression and axial elongation. Long-term use of HAL spectacles also decreased the incidence of high myopia. Extrapolated control groups are valid for evaluating myopia progression in long-term studies.Trial registration The study was registered at the Chinese Clinical Trial Registry (ChiCTR2100047262), https://www.chictr.org.cn/showproj.html?proj=127182.

BackgroundIn patients with Fuchs endothelial corneal dystrophy (FECD), the most beneficial stage to perform Descemet membrane endothelial keratoplasty (DMEK) remains uncertain. The goal of this study was to compare the surgical outcomes after DMEK in FECD patients with subclinical corneal edema and clinical corneal edema to test the hypothesis of whether performing surgery in subclinical corneal edema stages achieves better surgical outcomes.MethodsIn this prospective, observational, single-institution cohort study, 106 pseudophakic eyes of 85 patients with FECD were divided into two groups depending on the presence of preoperative subclinical and clinical corneal edema. Subclinical corneal edema was diagnosed if more than one of the following criteria was present in Scheimpflug tomography: loss of regular isopachs, displacement of the thinnest point of the cornea, and focal posterior corneal surface depression. Clinical corneal edema was diagnosed with slit-lamp biomicroscopy. The primary outcome was the corrected distance visual acuity (CDVA) 4 months after DMEK. Secondary outcomes were central corneal thickness (CCT), thinnest corneal thickness (TCT), and total corneal density (TCD) in Scheimpflug tomography, as well as endothelial cell loss (ECL) and the re-bubbling rate. The differences between both groups were analyzed using clustered Wilcoxon rank-sum tests or a Chi-squared test.ResultsPostoperative CDVA was significantly better in the group with subclinical edema (0.18 ± 0.12 logMAR) compared to the group with clinical edema (0.24 ± 0.19 logMAR; P = 0.026). Four months after DMEK, TCD was higher in the group with preoperative clinical edema [31.7 ± 8.3 gray scale units (GSU)] compared to the group with subclinical edema (27.8 ± 6.1 GSU; P = 0.005). The postoperative CCT, TCT, ECL, and re-bubbling rates did not differ significantly between both groups (all P > 0.05).ConclusionsDMEK for FECD yielded better visual acuity after 4 months when performed in the early stage of FECD compared to a later stage with clinical edema. This may be attributable to persistent corneal fibrosis after DMEK in eyes with preoperative clinically evident corneal edema, as suggested by higher postoperative corneal density in eyes with clinical edema. Consequently, the findings advocate for the consideration of earlier DMEK in FECD patients to achieve better surgical recovery.

BackgroundTo investigate the functional results of the AcrySof IQ Vivity (Alcon, Fort Worth, TX) extended depth-of-focus intraocular lens (EDoF-IOL) and explore correlations between the preoperative biometric parameters and the postoperative functional outcomes.MethodsIn a prospective, single-center, non-randomized study, axial length, keratometry, anterior chamber depth, scotopic and photopic pupil diameters, pupil decentration, corneal asphericity, corneal higher-order aberrations (HOAs), coma and spherical aberration were measured preoperatively. The EDoF-IOL was implanted bilaterally. Three months postoperatively, manifest refraction, monocular and binocular uncorrected and corrected visual acuity at 4 m, 66 cm and 40 cm, binocular defocus curve, binocular contrast sensitivity, halometry and Strehl ratio were measured. Visual disturbances and spectacle independence were assessed with McAlinden and IOLSAT questionnaires, respectively. Assuming a minimum Pearson r correlation coefficient between variables of 0.5 with a power of 80% and a P value less than 0.05, a minimum sample size of 29 (58 eyes) cases was required.ResultsForty-three patients were enrolled. Binocular distance corrected visual acuity was lower than 0.1 logMAR for a defocus between + 1.0 and − 1.5 D. The mean values at 66 cm and 40 cm were − 0.07 ± 0.06 and 0.19 ± 0.13 logMAR, respectively. McAlinden’s questionnaire revealed mean scores close to zero for all questions. The IOLSAT questionnaire showed that spectacles were never used for distance and intermediate vision. Regression analysis did not disclose any significant correlation between the preoperatively measured variables and the postoperative outcomes, with a few exceptions: preoperative higher order corneal aberrations were correlated to halometry area (r2 = 0.2592, P = 0.0006) and the Q value to contrast sensitivity (r2 = 0.1717, P = 0.00574) under photopic conditions with glare at a spatial frequency of 18 cpd and without glare for all spatial frequencies (P < 0.01); it was also correlated to contrast sensitivity under mesopic conditions without glare at a spatial frequency of 12 cpd (r2 = 0.2311, P = 0.0011).ConclusionsIn healthy unoperated eyes, the visual outcomes for this EDoF-IOL are independent of most of the patients’ preoperative parameters. Attention should be paid to preoperative corneal aberrations and asphericity, which did not lead to visual disturbances, but may be potential sources of halo and reduced contrast sensitivity.

BackgroundTo assess the safety and efficacy of phakic refractive lens (PRL) implantation for correcting high myopia, as well as an ophthalmic viscosurgical device-free (OVD-free) method for PRL implantation.MethodsIn this real-world prospective study, consecutive patients implanted with PRL in one or both eyes were enrolled. Based on the surgical techniques used, the eyes were divided into the OVD-free method group and the conventional method group. The patients were examined 2 h after surgery and were scheduled for follow-up at 1 day, 1 week, 1 month, 3 months, 6 months, and 12 months. The corrected distance visual acuity (CDVA), uncorrected distance visual acuity (UDVA), the manifest refraction spherical equivalent (MRSE), intraocular pressure (IOP) and lens vault were assessed postoperatively. Corneal endothelial cell density (ECD) was measured at the 3- and 12-month postoperative visits.ResultsFifty-seven consecutive patients (108 eyes) were enrolled. At the 3-month postoperative visit, both mean UDVA and CDVA were significantly improved after PRL implantation (0.19 ± 0.21 and 0.01 ± 0.14 logMAR) with efficacy index and safety index of 0.92 and 1.30, respectively. None of the eyes had any loss of CDVA. The percentage of eyes within ± 0.50 D and ± 1.00 D of target refraction was 58% and 83%, respectively. Mean MRSE changed from − 14.49 ± 4.22 D, preoperatively, to − 1.22 ± 1.26 D at 1 day (P < 0.001) and remained stable thereafter. Mean endothelial cell loss was 11.3%, 9.6%, respectively, at 3 and 12 months, with no significant difference between the two follow-ups (P = 0.395). Fifty-nine eyes received the OVD-free method, and 49 eyes received the conventional method. The OVD-free method demonstrated a significant reduction in the incidence of early acute IOP elevations (28.8% vs. 53.1%, P = 0.022) compared to the conventional method. The difference of initial endothelial cell loss (9.4 ± 14.2% vs. 13.6 ± 14.6%) between the two groups trended toward significance (P = 0.056). In both groups, no other major complications were observed up to 12-month follow-up.ConclusionsPRL implantation was a safe, efficient, predictable and stable method for correcting high myopia. The potential of lower incidence of early acute IOP elevations makes the OVD-free method a promising alternative to the conventional method.Trail registration: Chinese Clinical Trial Registry, ChiCTR2100043600. Registered on 23 February 2021, https://www.chictr.org.cn/showproj.html?proj=122229