BackgroundOptic disc melanocytoma is a rare, typically benign pigmented tumor that may occasionally lead to vision loss or tumor enlargement. Despite its usually indolent nature, the clinical behavior and risk factors as...BackgroundOptic disc melanocytoma is a rare, typically benign pigmented tumor that may occasionally lead to vision loss or tumor enlargement. Despite its usually indolent nature, the clinical behavior and risk factors associated with progression remain incompletely defined.MethodsA retrospective cohort study was conducted involving 21 patients diagnosed with optic disc melanocytoma at Sheba Medical Center, Israel, between 2009 and 2024. Data were collected on demographics, presenting symptoms, imaging characteristics, and visual outcomes. Tumor features were analyzed using fundus photography, optical coherence tomography (OCT), and B-scan ultrasonography. Statistical tests were performed to explore associations between tumor behavior and clinical variables.ResultsThe cohort had a mean age of 60.1 years; Fourteen (66.7%) were female. Most tumors appeared flat and were located inferiorly or nasally. Over a mean follow-up of 64 months, five (23.8%) patients exhibited measurable tumor growth, with one case (4.7%) resulting in severe visual decline. Vision loss of two or more Snellen lines was significantly associated with floaters at presentation ( = 0.04), optic disc edema ( = 0.002), and pigmented vitreous seeds ( = 0.04). No significant associations were found with demographic or iris pigmentation variables.ConclusionWhile optic disc melanocytoma typically follows a benign course, certain clinical features-such as floaters, disc edema, and vitreous seeding-may indicate a higher risk for tumor progression and vision loss. These findings highlight the importance of targeted surveillance strategies in patients presenting with these features to facilitate early detection and optimized management.
PurposeTo evaluate refractive outcomes and associated factors in patients undergoing combined filtering glaucoma surgery (trabeculectomy or non-penetrating deep sclerectomy (NPDS)) and cataract extraction with toric intr...PurposeTo evaluate refractive outcomes and associated factors in patients undergoing combined filtering glaucoma surgery (trabeculectomy or non-penetrating deep sclerectomy (NPDS)) and cataract extraction with toric intraocular lens implantation.DesignProspective consecutive case series.MethodsThis prospective case series included 43 eyes of 32 patients with preoperative corneal astigmatism ≥ 0.75 diopters (D) and moderate-to-severe open-angle glaucoma. Patients underwent trabeculectomy or NPDS and cataract surgery with toric intraocular lens (IOL) implantation. Main outcomes included refractive astigmatism (vector and refractive analysis), spherical equivalent (SE), mean absolute error (MAE), prediction error, intraocular pressure (IOP), and the influence of surgical technique and IOL characteristics.ResultsMean refractive astigmatism decreased from 2.29 ± 1.02 D to 0.57 ± 0.44 D at 6 months ( < 0.001). Mean SE improved from -1.38 ± 3.52 D to 0.06 ± 0.45 D. The MAE was 0.59 ± 0.40 D. No significant correlation was found between refractive results and surgical technique or IOL type. Complete IOP control without medication was achieved in 88.3% of eyes. Visual acuity improved in 97.6% of patientsConclusionsCombined glaucoma filtering surgery with toric IOL implantation yields effective astigmatism correction and favorable refractive outcomes without compromising IOP control. This approach is a valuable option for patients with moderate-to-severe glaucoma and preexisting corneal astigmatism.
PurposeThis study aimed to investigate the relationship between extraocular muscle (EOM) insertion involvement and clinical activity in patients with thyroid eye disease.MethodsThis cross-sectional retrospective study in...PurposeThis study aimed to investigate the relationship between extraocular muscle (EOM) insertion involvement and clinical activity in patients with thyroid eye disease.MethodsThis cross-sectional retrospective study included 292 eyes from 292 patients who underwent comprehensive ophthalmologic examination. Patients were divided into two groups based on the presence (Group 1) or absence (Group 2) of medial rectus muscle insertion involvement. Involvement was defined as hypertrophy and/or vascularization of the muscle insertion observed on slit-lamp examination. Ophthalmologic assessment included best-corrected visual acuity (BCVA, LogMAR), refractive error, intraocular pressure (IOP), slit-lamp examination of the anterior segment, dilated fundus examination, and Hertel exophthalmometry for both eyes. Additionally, magnetic resonance imaging (MRI) findings were evaluated for all patients.ResultsOur study included 71 patients in group 1 and 221 patients in group 2. The mean follow-up period was 4 ± 2 (2-8) years. Clinical activity score (CAS) and HE values were statistically significantly higher in the first group ( < 0.001). MRI analysis revealed significantly greater EOM enhancement in Group 1 ( < 0.05). Among patients with insertional involvement, 45 had CAS ≥ 4 and 26 had CAS ≤ 3. Statistically significant regression was observed in the CAS of patients with CAS ≤ 3, with insertional involvement and who were started on corticosteroid treatment.ConclusionThe CAS was significantly higher in patients with medial rectus insertion involvement on biomicroscopic examination ( < 0.001), suggesting that this finding may serve as an additional indicator of disease activity.
PurposeTo investigate the association between age-related macular degeneration (AMD), retinal artery occlusion (RAO), and retinal vein occlusion (RVO) and the future development of Alzheimer's disease (AD), vascular deme...PurposeTo investigate the association between age-related macular degeneration (AMD), retinal artery occlusion (RAO), and retinal vein occlusion (RVO) and the future development of Alzheimer's disease (AD), vascular dementia (VaD), and all-cause dementia (ACD).MethodsRetrospective propensity score-matched cohort study using TriNetX, a confederated healthcare network. The study population included 91,296 AMD, 15,372 RAO, 35,862 RVO, and 3,076,291 population control (PC) patients aged 65 and older. Propensity score matching was applied to control for baseline demographics and health characteristics. The primary outcome was the measured risk of developing AD, VaD, and ACD following incident diagnosis of AMD, RAO, or RVO.Major FindingsAMD was associated with a significantly elevated risk of AD (HR, 1.25; 95% CI, 1.17-1.34; < 0.001), VaD (HR, 1.20; 95% CI, 1.11-1.31; < 0.001), and ACD (HR, 1.12; 95% CI, 1.08-1.16; < 0.001) following diagnosis with an average follow up of 45.0 ± 36.7 months. RVO patients also displayed higher risks across all dementia types (AD: HR, 1.46; 95% CI, 1.22-1.74; < 0.001; VaD: HR, 1.51; 95% CI, 1.23-1.87; < 0.001; ACD: HR, 1.34; 95% CI, 1.22-1.47; < 0.001) with an average follow up of 46.6 ± 37.9 months.ConclusionsRetinal disease diagnoses may correlate with increased dementia risk. While AMD and RVO are associated with all dementias (AD, VaD, and ACD), RAO did not increase dementia risk.
PurposeAnterior Segment Dysgenesis (ASD) encompasses a heterogeneous group of congenital ocular malformations resulting from disrupted differentiation of neural crest-derived tissues. These disorders frequently lead to d...PurposeAnterior Segment Dysgenesis (ASD) encompasses a heterogeneous group of congenital ocular malformations resulting from disrupted differentiation of neural crest-derived tissues. These disorders frequently lead to developmental glaucoma, a major cause of childhood blindness. This review summarizes the current clinical, genetic, and management perspectives on ASD associated with glaucoma.MethodsA comprehensive literature search of PubMed, Scopus, and Web of Science (January 2000-August 2025) identified 186 relevant studies reporting clinical, molecular, and therapeutic findings. Data were synthesized across major ASD subtypes: aniridia, Axenfeld-Rieger anomaly, Peters anomaly, primary aphakia, and related entities.ResultsMutations in key transcriptional and structural genes-including -account for the majority of ASD cases. Novel associations involving have broadened the known genetic spectrum. Genotype-phenotype correlations explain the variability in glaucoma onset and treatment response among subtypes. Modern diagnostic strategies integrating anterior segment imaging with next-generation sequencing have improved early detection and prognostic accuracy. Management requires individualized surgical and medical approaches based on the underlying genetic mechanism.ConclusionASD-associated glaucoma exemplifies the interface between developmental genetics and clinical ophthalmology. Understanding gene-specific mechanisms aids precision diagnosis, risk stratification, and multidisciplinary care. Continued advances in molecular diagnostics and targeted therapies promise to transform outcomes for children with congenital anterior segment anomalies. Collaborative registries and functional genomics will be pivotal in translating molecular discoveries into targeted therapies and improved lifelong vision outcomes.
BackgroundBecause the ciliary sulcus is vertically oval and only a limited range of EVO Implantable Collamer Lens (ICL) sizes is available, suboptimal vault is sometimes unavoidable. This study evaluated whether a simple...BackgroundBecause the ciliary sulcus is vertically oval and only a limited range of EVO Implantable Collamer Lens (ICL) sizes is available, suboptimal vault is sometimes unavoidable. This study evaluated whether a simple 90-degree vertical-horizontal rotation of non-toric ICLs can correct low or high vault without changing lens size.MethodsThis retrospective case series included consecutive eyes with suboptimal vault after primary implantation of non-toric ICL at a single refractive surgery center. Eyes with low vault underwent rotation from vertical to horizontal orientation, and eyes with high vault underwent rotation from horizontal to vertical. The primary outcome was the change in central vault; secondary outcomes included the proportion of eyes within a target vault of 250-750 µm, changes in refraction, IOP, and angle parameters.ResultsFifteen eyes from 11 patients were included (7 low-vault with vertical to horizontal, 8 high-vault with horizontal to vertical). In the low-vault group, mean vault increased from 106.57 to 324.86 µm (P < 0.001), with eyes in the target range increasing from 0% to 85.7% (P = 0.031). In the high-vault group, mean vault decreased from 946.88 to 561.38 µm (P < 0.001), and eyes in the target range increased from 0% to 100.0% (P = 0.016). Visual acuity, refraction, IOP, and angle parameters were generally stable, and no complications occurred.ConclusionsIn eyes with suboptimal vault after non-toric ICL implantation, 90-degree vertical-horizontal rotation can predictably move vault into a safer range without changing lens size and may be considered as a minimally invasive option before planning ICL exchange in selected cases.
PurposeTo evaluate the agreement between a virtual clinic model based on ultra-widefield imaging (UWFI) and spectral-domain optical coherence tomography (SD-OCT) and conventional face-to-face (F2F) slit-lamp fundus exami...PurposeTo evaluate the agreement between a virtual clinic model based on ultra-widefield imaging (UWFI) and spectral-domain optical coherence tomography (SD-OCT) and conventional face-to-face (F2F) slit-lamp fundus examination with SD-OCT for treatment decision-making in patients receiving intravitreal injections.MethodsIn this retrospective masked paired comparative study, consecutive patients receiving intravitreal injections underwent F2F evaluation by a retina specialist using slit-lamp biomicroscopy and SD-OCT. F2F examination was predefined as the reference standard. During the same clinical encounter, UWFI was obtained. A second retina specialist, masked to the clinical findings and decisions, independently reviewed the SD-OCT and UWFI images in a virtual setting and made management decisions.ResultsA total of 426 eyes from 304 patients were included. Of these, 217 eyes (50.94%) had neovascular age-related macular degeneration (NVAMD), 151 (35.45%) diabetic macular edema (DME), and 56 (13.15%) retinal vein occlusion (RVO; 36 branch RVO, 14 central RVO, and 6 hemi-retinal RVO). One eye (0.23%) had myopic choroidal neovascularization (CNV), and one (0.23%) had Sorsby macular dystrophy with CNV.The virtual assessment demonstrated 98.12% agreement with the F2F examination for treatment decisions (Cohen's = 0.90; 95% CI, 0.83-0.97). Recognition of NVAMD-associated macular hemorrhages was comparable between modalities. UWFI identified additional cases of neovascularization of the disc (NVD) and neovascularization elsewhere (NVE), all of which were subsequently confirmed on slit-lamp examination. The mean virtual review time was more than twofold shorter than the F2F evaluation ( < 0.001).ConclusionsVirtual assessment using ultra-widefield imaging demonstrated high agreement with F2F slit-lamp examination for treatment decision-making in patients receiving intravitreal injections. This approach may represent an efficient alternative for selected follow-up visits in which anterior segment evaluation is not required.
PurposeTo demonstrate non-inferiority on efficacy and safety of preservative-free bimatoprost 0.01% versus preserved and higher-concentration bimatoprost formulations for the treatment of glaucoma or ocular hypertension...PurposeTo demonstrate non-inferiority on efficacy and safety of preservative-free bimatoprost 0.01% versus preserved and higher-concentration bimatoprost formulations for the treatment of glaucoma or ocular hypertension (OHT), using a network meta-analysis (NMA).MethodsA systematic review and Bayesian NMA were conducted according to a pre-registered protocol (PROSPERO: CRD420250650769) and PRISMA-NMA guidelines. Randomised controlled trials comparing monotherapies of bimatoprost (preserved or preservative-free) in adults with glaucoma or OHT were included. The primary endpoint was mean intraocular pressure (IOP) at Week 12. Conjunctival hyperaemia, were descriptively analysed. Risk of bias was assessed using the Cochrane RoB 2 tool.ResultsFour studies were included. The Bayesian NMA demonstrated that preservative-free bimatoprost 0.01% was non-inferior to all other bimatoprost formulations in lowering IOP, with all 95% credible intervals falling within the 1.5 mmHg non-inferiority margin. Sensitivity analyses using a frequentist model confirmed these findings. Safety analysis indicated that preservative-free bimatoprost formulations were associated with lower rates of hyperaemia compared to preserved versions. At Week 12, more patients had no hyperaemia with preservative-free bimatoprost 0.01% (57.3% vs. 43.6%) and fewer showed worsening scores (18.3% vs. 30.4%). Hyperaemia reported as an adverse event was also less frequent with bimatoprost 0.01% than 0.03% (28.6% vs. 37.4%).ConclusionsPreservative-free bimatoprost 0.01% provided IOP-lowering efficacy similar to preserved or higher-dose bimatoprost, with less occurrence of conjunctival hyperaemia. Further long-term studies are needed to confirm these benefits.
PurposeTo evaluate the differences in hyperopic laser assisted in situ keratomileusis (LASIK) results between small, medium, and large cyclorotational angle degrees.MethodsThis retrospective study included consecutive pa...PurposeTo evaluate the differences in hyperopic laser assisted in situ keratomileusis (LASIK) results between small, medium, and large cyclorotational angle degrees.MethodsThis retrospective study included consecutive patients who underwent hyperopic LASIK between 2012 and 2023 at Care-Vision Laser Centers, Israel. Patients were divided into three groups according to their cyclorotation angle magnitude. A comparison of baseline and intraoperative parameters was performed. Refractive and visual outcomes were assessed, including Efficacy and safety indexes, and an Alpins vector analysis was performed. Multiple linear regression was performed to identify the effect of potential confounders.ResultsOverall, 621 eyes of 428 patients were included. Mean age was 44.5 ± 12.6 years and 52.7% were female. Analysis indicated no significant differences in any of the visual and refractive outcomes including the calculated indexes. Alpins vector analysis showed no significant differences between the groups in any of the vectors either in size or magnitude, nor were there significant differences in the Alpins calculated indicators. Multi-linear regression for potential confounders suggested the preoperative axis had significant confounding association only with a null effect (β < 0.01, p = 0.03) on the Alpins index of success.ConclusionsCyclorotational angle magnitude did not significantly impact visual or refractive outcomes in hyperopic LASIK performed using modern excimer laser systems with cyclorotation correction abilities. These findings suggest limited clinical relevance of cyclorotation degree in LASIK outcomes in this context, with other factors potentially playing a more significant role in surgical planning.
IntroductionThis study investigates global research trends on visually impaired athletes (VIA) from 1960 to 2025, focusing on the evolution, productivity, and influence of scholarly output. By examining contributions fro...IntroductionThis study investigates global research trends on visually impaired athletes (VIA) from 1960 to 2025, focusing on the evolution, productivity, and influence of scholarly output. By examining contributions from countries, institutions, journals, and authors, the study highlights emerging themes and collaborative networks that shape this specialized field.MethodsA bibliometric analysis was conducted using publications retrieved from the Web of Science (WoS) Core Collection. Quantitative indicators included publication count, citation frequency, average citations per article, and the Hirsch index. VOSviewer (version 1.6.19) was used to map keyword co-occurrence, co-citation, and co-authorship collaboration networks, providing insight into thematic development and international collaboration.ResultsThe USA led research output with 112 publications (28.3%), followed by Brazil (53, 13.4%) and the UK (48, 12.2%). Vrije Universiteit Amsterdam (19 publications) and Amsterdam Movement Sciences (15) were the most productive institutions. The was the most prolific journal, while Mann, DL, was the most productive author, with 19 publications and 381 citations. Research activity increased markedly over time, averaging 11 publications annually between 2010 and 2015 and peaking at 47 publications in 2021.ConclusionResearch on VIA has increased significantly, especially in the past two decades, reflecting growing recognition of the role of sport in rehabilitation, social inclusion, and psychological well-being. The identification of influential authors, institutions, and collaboration patterns provides a foundation for advancing evidence-based practices and shaping future policy and research directions in support of VIA.
PurposeTo evaluate the efficacy of oral riboflavin and sunlight exposure in stabilizing keratoconus progression.MethodsIn this prospective interventional study with a retrospective historical control group, patients with...PurposeTo evaluate the efficacy of oral riboflavin and sunlight exposure in stabilizing keratoconus progression.MethodsIn this prospective interventional study with a retrospective historical control group, patients with progressive keratoconus received 60 mg/day of oral riboflavin and 30 min/day of sunlight exposure for three months. A historical control group included patients with similar characteristics who were awaiting cross-linking or keratoplasty. Ophthalmological exams and corneal topography were conducted at baseline, 6 months, and 12 months post-treatment. A sub-analysis was performed for patients with corneal stromal thickness (CST) ≥ 400 µm and < 400 µm.ResultsFifty patients [91 eyes; 31 (62%) males] with a mean age of 18.7 ± 4.4 years (range, 11-31) and a mean maximum keratometry (Kmax) of 57.9 ± 8.3 D comprised the treatment group. Kmax flattened (-1.22 ± 4.78 D; P = 0.003) in treated eyes; however, it steepened (+0.32 ± 11.96 D; P = 0.455) in controls at 6 months. Keratoconus progression occurred in 27.5% of treated eyes versus 49.5% in controls (P = 0.002). Eyes with CST ≥ 400 µm had a 3.85-fold higher risk of progression in the control group than in treated eyes (95% CI: 1.6-9.3; P = 0.001).ConclusionAfter one year, 72.5% of treated eyes remained stable following the use of oral riboflavin and sunlight exposure, with a significantly lower risk of progression in eyes with normal CST.
PurposeTo assess the long-term stability of the color and pattern of corneal tattooing by dermal ink, designed to mimic the iris of the normal eye.MethodsA retrospective study was performed, recruiting cases with minimum...PurposeTo assess the long-term stability of the color and pattern of corneal tattooing by dermal ink, designed to mimic the iris of the normal eye.MethodsA retrospective study was performed, recruiting cases with minimum follow-up of 10 years. Patients were examined and subjected to a questionnaire assessing satisfaction. The initial procedure was selected for patients with disfiguring corneal opacity with no hope for vision and a normal fellow eye. The punctures were performed by passing a spatulated needle tip through a drop of colored dermal ink on the corneal surface, targeting the superficial one-third of the cornea. When indicated, re-shaping of corneal contour was performed to improve the angle of exotropia or normalize the corneal diameter in microcornea and macrocornea.ResultsFifty patients were enrolled; 24 males (48%) and 26 females (52%). Mean age was 25.43 ± 13.55 years (4-62 years). Mean follow up was 10.50 ± 0.62 years. Most patients (38, 72%) needed two sessions, 6 (12%) needed one session and 6 (12%) needed 3 sessions. Thirteen cases had preoperative exotropia (XT) of 14.5 ± 3.5 PD, 11 of which (84.6%) had successful nasal shift of the corneal circumference to correct the XT. The satisfaction score was 5/5 in 42 patients (84%), 4/5 in 7 patients (14%), and 2/5 in one patient (2%). No aggressive early/late postoperative reactions were reported.ConclusionCorneal tattooing by micropuncture with dermal ink is a well-tolerated technique with high patient satisfaction up to 10 years after surgery. One session is generally insufficient.
PurposeManaging intraocular lens (IOL) implantation in patients with insufficient capsular support can be challenging. This study compares the safety and efficacy of Akreos AO z-suture scleral fixation and Artisan Aphaki...PurposeManaging intraocular lens (IOL) implantation in patients with insufficient capsular support can be challenging. This study compares the safety and efficacy of Akreos AO z-suture scleral fixation and Artisan Aphakia IOL retropupillary iris claw techniques for patients lacking capsular and zonular support.SettingThis retrospective study was conducted at Unidade Local de Saúde de Matosinhos, Portugal, between June 2012 and December 2023.MethodsSeventy-eight eyes of 76 patients were included. Preoperative and one-year postoperative data were collected, including best-corrected visual acuity (BCVA), spherical equivalent, intraocular pressure, and complications. Statistical analysis was performed with SPSS Statistics, version 29.0.ResultsThe most common indications for surgery were complicated cataract surgery (38.5%), spontaneous IOL luxation (37.2%), trauma (15.4%), and Marfan syndrome (5.1%). Postoperative BCVA at one year was 0.38 ± 0.45 logMAR in the scleral fixation group and 0.50 ± 0.43 logMAR in the artisan group (p = 0.23). The most common complication was the luxation of one of the haptics of the lens, all in the artisan group (5 eyes).Discussion and/or ConclusionNo significant difference in postoperative BCVA was found between the two techniques. However, the artisan group had a higher complication rate, suggesting that this should be considered when selecting the surgical approach.
PurposeTo evaluate whether preoperative systemic inflammatory indices and tear film parameters predict pterygium recurrence after conjunctival autograft (CAG) surgery.MethodsThis retrospective matched case-control study...PurposeTo evaluate whether preoperative systemic inflammatory indices and tear film parameters predict pterygium recurrence after conjunctival autograft (CAG) surgery.MethodsThis retrospective matched case-control study included 94 eyes (47 with recurrence, 47 controls) matched for age, sex, and pterygium grade. Preoperative neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), monocyte-to-lymphocyte ratio (MLR), and systemic immune-inflammation index (SII) were calculated from complete blood counts. Tear breakup time (TBUT) and Schirmer I test assessed ocular surface function. Between-group differences and logistic regression identified independent predictors, while receiver operating characteristic (ROC) analysis evaluated discriminative performance.ResultsPatients with recurrence had higher NLR (median 2.5 vs. 1.9, p < 0.001) and SII (600 vs. 450 × 10, p < 0.01), whereas PLR and MLR showed no significant differences. Tear film parameters were worse in recurrence cases: TBUT (5.0 vs. 8.0 s, p < 0.001) and Schirmer I (8 vs. 12 mm, p = 0.02). Multivariate analysis identified elevated NLR (≥2.0; OR 4.2, 95% CI 1.4-12.8) and reduced Schirmer I (≤10 mm; OR 3.0, 95% CI 1.1-7.9) as independent predictors.ConclusionsElevated systemic inflammation and impaired tear function independently predict pterygium recurrence. Incorporating these markers may guide individualized risk assessment and postoperative management.
PurposeTo compare patient education with a medical device as strategies to improve eye drop instillation in glaucoma patients and to assess their effects on intraocular pressure (IOP) control, treatment adherence, self-p...PurposeTo compare patient education with a medical device as strategies to improve eye drop instillation in glaucoma patients and to assess their effects on intraocular pressure (IOP) control, treatment adherence, self-perceived competence, and observer-rated technique.MethodologyIn this randomized, crossover trial, 45 patients with primary open-angle glaucoma were assigned to group A (education only, n = 22) or group B (device, n = 23). After 60 days, the groups crossed over to the alternate intervention. IOP, ocular surface staining, treatment adherence, and instillation techniques were evaluated over 120 days using questionnaires and observer assessments.ResultsBy the second assessment, mean right-eye IOP was lower with the device (15.8 mmHg vs. 20.1 mmHg; < 0.05), and this reduction persisted after crossover. In contrast, the education group showed a nonsignificant trend toward worsening IOP ( > 0.05), possibly influenced by baseline differences. Overall, the device achieved a 35% reduction in IOP compared with 23% for education alone. Adherence also improved markedly with the device: 71.1% of patients reported better compliance, versus only 2.2% in the education group (26.7% reported no change). Observer assessments supported these findings, with 91% of device users demonstrating correct instillation technique compared with 32% in the education group. Overdosing was more common in the education group (42% instilled more than one drop vs. 9% with the device). Patients additionally rated the device as easier and safer to useConclusionThe medical device outperformed education alone in improving instillation technique, IOP control, and treatment adherence while also reducing overdosing.
PurposeThis is the first report that describes a case of Kabuki syndrome with peripheral retinal ischemia and neovascular glaucoma.Case reportA 44-year-old woman with genetically confirmed Kabuki syndrome was referred wi...PurposeThis is the first report that describes a case of Kabuki syndrome with peripheral retinal ischemia and neovascular glaucoma.Case reportA 44-year-old woman with genetically confirmed Kabuki syndrome was referred with bilateral elevated intraocular pressure (circa 50mmHG in both eyes), and longstanding poor vision and high myopia (6/60 vision right, counting fingers left eye). Slit-lamp examination revealed bilateral microcornea (10 mm), right eye angle neovascularization, and 3 mm left eye hyphema associated with 360° rubeosis iridis confirmed on fluorescein angiography. Fundoscopy showed a cup-to-disc ratio of 0.5 in right eye and significant peripapillary chorioretinal atrophy, with coloboma-like features in left eye. Widefield fluorescein angiography showed asymmetrical peripheral retinal ischaemia, with telangiectatic mid-peripheral vessels, which leaked in the late phase of fluorescein angiography. A diagnosis of secondary neovascular glaucoma due to ischaemic retinal vasculopathy was made.ConclusionThis case expands the known ocular phenotype of Kabuki syndrome to include peripheral retinal ischaemia and neovascular glaucoma.. It highlights the importance of early, comprehensive ophthalmologic assessment and multidisciplinary management in patients with Kabuki syndrome, especially when complicated by vision-threatening conditions like neovascular glaucoma.