Koh BMQR, Chong C, Tan G
… +2 more, Cheng CY, Sabanayagam C
J Glob Health
· 2026 Jun · PMID 42318791
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BACKGROUND: To evaluate incidence, progression and risk factors of vision-threatening diabetic retinopathy (VTDR) in two Asian populations with diabetes. METHODS: We included data from 1177 Malay and Indian adults aged 4...BACKGROUND: To evaluate incidence, progression and risk factors of vision-threatening diabetic retinopathy (VTDR) in two Asian populations with diabetes. METHODS: We included data from 1177 Malay and Indian adults aged 40-80 years with diabetes, who participated in baseline (2004-2009) and 12-year follow-up (2017-2023) of the Singapore Epidemiology of Eye Diseases study (SEED). Incident VTDR was defined among participants free of any DR at baseline as the development of severe non-proliferative DR, proliferative DR, or clinically significant macular oedema at follow-up, assessed from two-field fundus photography using ETDRS severity scale without optical coherence tomography (OCT). Progression was assessed in those with mild or moderate DR at baseline (n = 211). Risk factors included age, sex, ethnicity, systolic blood pressure (BP), duration of diabetes, and glycated haemoglobin (HbA1c). Associations between risk factors and outcomes were evaluated using Poisson regression models, and results presented as relative risks (RR) with 95% confidence intervals (CI). RESULTS: The 12-year cumulative incidence of VTDR was 3.8% (Indians = 4.4%; Malays = 3.0%) while progression to VTDR was 17.1% (Indians = 18.4%; Malays = 14%). In multivariable models, Indian ethnicity (RR = 2.23; 95% CI = 1.17-4.27), higher systolic BP (RR = 1.02; CI = 1.00-1.03), longer duration of diabetes (RR = 1.05; CI = 1.00-1.09), and higher HbA1c (RR = 1.52; CI = 1.35-1.70) were positively associated whereas older age (RR = 0.95; CI = 0.91-0.99) was negatively associated with incident VTDR. Higher HbA1c (RR = 1.29; CI = 1.11-1.49) was associated with VTDR progression. CONCLUSIONS: In this 12-year population-based study, we found a low cumulative incidence of VTDR (4%) but a relatively high progression among those with baseline DR (17%). These findings support the potential value of risk-stratified screening approaches. Individuals without DR at baseline may be considered for less frequent screening, whereas those with mild DR and/or poor glycaemic control may benefit from closer monitoring due to their higher risk of progression.
Front Med (Lausanne)
· 2026 · PMID 42318402
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Diabetic retinopathy (DR) is the leading cause of vision loss among working-age adults. Early screening and precise staging are crucial for delaying disease progression. Although the traditional Early Treatment of Diabet...Diabetic retinopathy (DR) is the leading cause of vision loss among working-age adults. Early screening and precise staging are crucial for delaying disease progression. Although the traditional Early Treatment of Diabetic Retinopathy Study (ETDRS) 7-field method is the gold standard for grading, it covers only 35% of the retinal area, carrying a risk of missing peripheral lesions. Ultra-widefield color fundus photography (UWF-CFP) overcomes this limitation by capturing up to 200° of the retina in a single image, enabling comprehensive visualization of peripheral ischemia, neovascularization, and peripheral-posterior pole asymmetry lesions. In recent years, combining UWF-CFP with deep learning algorithms has achieved robust performance in automated DR screening, grading, and quantitative vascular analysis. When further integrated with ultra-widefield swept-source optical coherence tomography angiography (UWF SS-OCTA) or multimodal clinical data, these AI-driven methods can improve diagnostic consistency and staging accuracy. Moreover, because the retinal microvasculature mirrors systemic microcirculation, vascular parameters from UWF-CFP have shown correlations with diabetic nephropathy, coronary artery calcification, and stroke risk, highlighting a potential role in non-invasive assessment of systemic complication risks in diabetic patients. UWF-CFP is facilitating a shift in the DR assessment paradigm from ETDRS 7-field to full retinal assessment. Combined with artificial intelligence and multimodal data integration, UWF-CFP has the potential to contribute to a future care model that integrates ocular and systemic risk assessment, which we tentatively term "eye-system collaborative management," though this paradigm remains to be validated in prospective studies.
Guebey G, Chong M, Barrier A
… +3 more, Mauler-Wittwer S, Noble S, Liabot Q
Clin Case Rep
· 2026 May · PMID 42318281
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Intracoronary imaging is a true game-changer in acute coronary syndromes, enhancing diagnostic accuracy while ensuring precise, mechanism-driven, and patient-tailored management.Intracoronary imaging is a true game-changer in acute coronary syndromes, enhancing diagnostic accuracy while ensuring precise, mechanism-driven, and patient-tailored management.
BACKGROUND: HIST1H1E syndrome is caused by frameshift variants in the gene; while strabismus and refractive errors have been previously reported, this is the first case describing optic and cerebellar atrophy in an affe...BACKGROUND: HIST1H1E syndrome is caused by frameshift variants in the gene; while strabismus and refractive errors have been previously reported, this is the first case describing optic and cerebellar atrophy in an affected individual to our knowledge. METHODS: A 51-year-old woman with intellectual disability, recurrent falls, and progressive visual difficulties required comprehensive ophthalmic, neurologic, and genetic evaluation. RESULTS: Systemic examination revealed characteristic facial dysmorphism, brachydactyly, ataxic gait, tremor, and positive Romberg's sign. Ophthalmic examination showed bilateral optic disc pallor with patchy visual field deficits. Optical coherence tomography (OCT) confirmed retinal nerve fiber involvement and ganglion cell layer (GCL) loss. Electrophysiology supported bilateral optic neuropathies. Computed Tomography demonstrated optic nerve and cerebellar atrophy. Whole-exome sequencing identified a pathogenic heterozygous variant c.464dupC.p.(Lys157Glufs39) in the gene. CONCLUSION: This patient expands the HIST1H1E syndrome phenotype to include cerebellar and optic nerve atrophy compatible with a neurodegenerative process.
Liu H, Zhou J, He S
… +5 more, Wang S, Wang H, Li Z, Yan R, Guo J
Front Cardiovasc Med
· 2026 · PMID 42318147
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BACKGROUND: The incidence and natural history of radial artery dissection (RAD) after transradial or distal transradial coronary intervention (TDRI) remain unclear. AIMS: To determine the incidence, classification, heali...BACKGROUND: The incidence and natural history of radial artery dissection (RAD) after transradial or distal transradial coronary intervention (TDRI) remain unclear. AIMS: To determine the incidence, classification, healing patterns, vascular remodeling, and factors associated with RAD identified by optical coherence tomography (OCT). METHODS: This retrospective single-center study included 1,995 patients who underwent radial artery OCT during TDRI with a uniform 6 Fr introducer sheath between 2016 and 2024. RAD incidence was assessed on a patient basis (≥1 RAD/patient). RAD lesions were classified per lesion as Type I (flap) or Type II (cavity), stratified by external elastic membrane (EEM) depth (E1 within media; E2 at EEM; E3 beyond EEM). Healing and remodeling were analyzed per lesion in a repeat-OCT cohort defined as patients who underwent repeat radial artery OCT during subsequent TDRI; a remodeling index <1 defined negative remodeling. Exploratory logistic regression was performed to identify factors associated with RAD. RESULTS: RAD occurred in 266/1,995 patients (13.3%). Overall, 325 RAD lesions were identified (mean 1.22 per patient); the most frequent baseline subtype was Type I-E1 (33.8%). In exploratory multivariable analysis, older age, female sex, longer procedure duration, clinically relevant radial artery spasm, and smaller OCT-derived reference radial artery diameter remained associated with RAD. In the repeat-OCT cohort (22 patients; 28 lesions), repeat OCT at day 9 in one patient (3 lesions) showed partial healing, whereas repeat radial artery OCT performed ≥30 days in the remaining 21 patients (25 lesions) demonstrated complete healing, predominantly through intimal hyperplasia (60%) or fibrous plaque (40%). The mean remodeling index was 0.94 ± 0.11. CONCLUSIONS: In this 6 Fr sheath-based TDRI cohort,RAD was frequently detected by OCT and was usually limited in depth. Older age, female sex, radial artery spasm, longer procedure duration, and smaller radial artery diameter were associated with RAD. lesions reassessed ≥30 days healed completely with mild negative remodeling.
Case Rep Ophthalmol
· 2026 · PMID 42318075
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INTRODUCTION: Alport syndrome is a genetic condition characterized by chronic kidney disease, hearing loss, and a wide range of ophthalmological alterations. We describe the case of a patient with X-linked Alport syndrom...INTRODUCTION: Alport syndrome is a genetic condition characterized by chronic kidney disease, hearing loss, and a wide range of ophthalmological alterations. We describe the case of a patient with X-linked Alport syndrome whose main ocular manifestation was peripapillary retinoschisis. CASE PRESENTATION: A 60-year-old woman was observed in our department after suspicion for Alport syndrome was raised in her son. She had no visual complaints. On observation, the patient had 20/25 Snellen best corrected visual acuity in both eyes and mild peripheral fleck retinopathy. Optical coherence tomography revealed the presence of bilateral peripapillary retinoschisis, multiple cysts within the retinal nerve fiber layer on both eyes, and vitreomacular adhesion on the left eye. Full-field electroretinogram was considered normal and autofluorescence retinography depicted mottled hyper and hypo-autofluorescent areas in the peripheral retina bilaterally. Genetic study identified a specific undescribed COL4A5 mutation in heterozygosity in the patient and in hemizygosity in her son. CONCLUSION: Alport syndrome is frequently associated with fleck retinopathy and lenticonus, but a wide range of ocular manifestations may be present. It is important to identify rarer and more subtle ocular phenotypes, especially among women with X-linked Alport syndrome, who tend to be underdiagnosed.
We report a rare case of bilateral acute retinal pigment epitheliitis (ARPE) documented using multimodal imaging, with detailed sequential optical coherence tomography (OCT) findings. A woman in her 30s presented with ac...We report a rare case of bilateral acute retinal pigment epitheliitis (ARPE) documented using multimodal imaging, with detailed sequential optical coherence tomography (OCT) findings. A woman in her 30s presented with acute bilateral visual deterioration without prodromal symptoms. Fundus examination revealed yellowish-white lesions localized to the fovea in both eyes. OCT demonstrated dome-shaped hyperreflective lesions with disruption of the ellipsoid zone (EZ) and interdigitation zone (IZ). OCT angiography, fluorescein angiography, and indocyanine green angiography showed no significant abnormalities. Based on these findings, bilateral ARPE was diagnosed. Given the bilateral visual impairment, topical betamethasone sodium phosphate was initiated to facilitate early recovery. Sequential OCT demonstrated gradual restoration of the outer retinal layers, with recovery of the external limiting membrane, followed by the IZ and EZ. Best-corrected visual acuity improved to 1.0 in both eyes within two months, and near-complete anatomical resolution was confirmed by three months. No recurrence was observed after treatment cessation. This case highlights the rare bilateral presentation of ARPE and demonstrates the value of OCT in monitoring layer-by-layer recovery of the outer retina, while emphasizing the importance of differentiating it from other white dot syndromes.
PURPOSE: The purpose of this study was to determine the detection rate and associated factors of latent macular lesions using preoperative Spectral-domain optical coherence tomography (SD-OCT) in Japanese patients schedu...PURPOSE: The purpose of this study was to determine the detection rate and associated factors of latent macular lesions using preoperative Spectral-domain optical coherence tomography (SD-OCT) in Japanese patients scheduled for cataract surgery with no clinically confirmed macular abnormalities. SETTING: Teine Keijinkai Hospital, Sapporo, Japan. DESIGN: Retrospective observational study. METHODS: We included 316 eyes of 316 Japanese cataract patients scheduled for surgery between January 2023 and December 2024 who had no suspected macular pathology on slit-lamp biomicroscopy. All patients underwent comprehensive ophthalmic examinations and SD-OCT, and the detection rate of latent macular lesions and their associated factors were investigated. RESULTS: Latent macular lesions were detected in 30 eyes (9.5%) of 316 patients with a mean age of 76.8 ± 8.8 years. The most frequent lesions were epiretinal membrane (15 eyes, 4.7%), followed by irregular elevation of the retinal pigment epithelium (10 eyes, 3.2%). Clinically significant lesions requiring immediate surgical modification or additional treatment were identified in 3 eyes (1.0%), including a full-thickness macular hole (1 eye) and neovascular age-related macular degeneration (2 eyes). Age was independently associated with latent macular lesions (odds ratio 1.10, 95% Confidence Interval 1.04-1.16, P<0.01). CONCLUSION: Preoperative OCT screening may contribute to the evaluation of latent macular lesions, particulary in elderly cohort, and lead to optimized surgical planning.
PurposeTo evaluate functional and anatomical outcomes after intravitreal dexamethasone implant (DEXI) in macular edema secondary to retinal vein occlusion (ME-RVO), comparing treatment-naïve eyes with early-switch (ES) a...PurposeTo evaluate functional and anatomical outcomes after intravitreal dexamethasone implant (DEXI) in macular edema secondary to retinal vein occlusion (ME-RVO), comparing treatment-naïve eyes with early-switch (ES) and late-switch (LS) eyes previously treated with anti-VEGF, to explore the optimal therapeutic window for switching.MethodsA retrospective real-world study including 71 eyes with ME-RVO treated with DEXI and followed for 12 months. Patients were classified as naïve (no prior intravitreal therapy), ES (≤3 anti-VEGF injections before switching), and LS (>3 anti-VEGF injections before switching). Functional outcomes were assessed by best-corrected visual acuity (BCVA), and anatomical outcomes by central macular thickness (CMT) using spectral-domain optical coherence tomography.ResultsBCVA improved significantly at month 2 in treatment-naïve and ES eyes (p < 0.05), whereas no significant change was observed in LS eyes. A ≥ 2-line gain occurred in 50% of naïve eyes, markedly higher than in previously treated eyes. Naïve patients maintained functional and anatomical improvement throughout follow-up. All groups demonstrated an early reduction in CMT at month 2 ( < 0.05). Multivariate analysis identified baseline BCVA, but not switching timing, as the main predictor of functional improvement.ConclusionsWhile DEXI improved anatomical outcomes across all subgroups, functional recovery was more frequently observed in naïve and ES eyes. However, baseline BCVA emerged as the main independent determinant of functional response, suggesting that visual outcomes are primarily driven by initial visual status rather than switching timing. By including a naïve comparison group, this study provides novel insights into the management of ME-RVO in patients with suboptimal anti-VEGF response.
Tang J, Sun Y, Jin E
… +4 more, Yao Y, Cai Y, Zeng Q, Miao H
Int J Retina Vitreous
· 2026 Jun · PMID 42316264
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BACKGROUND: Suprachoroidal injection enables targeted posterior segment drug delivery with reduced anterior segment exposure. Off-label use of the dexamethasone implant (Ozurdex) via the suprachoroidal route may benefit...BACKGROUND: Suprachoroidal injection enables targeted posterior segment drug delivery with reduced anterior segment exposure. Off-label use of the dexamethasone implant (Ozurdex) via the suprachoroidal route may benefit patients with macular edema who have contraindications to intravitreal therapy. This article aims to introduce a two-step surgical technique for suprachoroidal Ozurdex injection and reports its feasibility and short-term outcomes in an illustrative case. METHODS: A custom‑made injector assembled from a 26‑gauge hypodermic needle and an intravenous catheter. The technique involves: (1) injection of 0.3mL sodium hyaluronate viscoelastic into the suprachoroidal space at 4.0 mm posterior to the limbus; (2) injection of the dexamethasone implant through the same site. The technique was performed in a 37‑year‑old pregnant woman at 24 weeks of gestation with vitreous hemorrhage and macular edema secondary to proliferative diabetic retinopathy in the left eye immediately following pars plana vitrectomy. Main outcomes included feasibility, safety, best‑corrected visual acuity (BCVA), intraocular pressure (IOP) and imaging findings on ultrasound biomicroscopy (UBM) and optical coherence tomography (OCT). RESULTS: The procedure was completed without intraoperative complications. UBM at postoperative week 1 confirmed Ozurdex within an anechoic suprachoroidal space, which resolved by week 12. BCVA improved from decimal 0.2 (Snellen 4/20) at baseline to 0.4 (20/50) at 12 weeks. IOP remained stable (21-23 mmHg), with no cataract progression or significant IOP elevation. OCT showed resolution of intraretinal cysts. CONCLUSIONS: This two-step technique for suprachoroidal Ozurdex delivery using a custom‑made injector with viscoelastic pre‑injection is feasible and showed no major safety concerns in this case. It may provide an alternative delivery method for selected patients with non‑infectious macular edema who have relative contraindications to intravitreal anti‑vascular endothelial growth factor (VEGF) or corticosteroid injections. Further studies are needed to establish safety and efficacy.
Thakali S, Shrestha M, Gauchan A
… +1 more, Gurung HB
BMC Ophthalmol
· 2026 Jun · PMID 42316110
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BACKGROUND: This study aimed to evaluate the indications and real-world treatment outcomes of intravitreal bevacizumab in a resource-limited community eye hospital setting. METHODS: This retrospective study included pati...BACKGROUND: This study aimed to evaluate the indications and real-world treatment outcomes of intravitreal bevacizumab in a resource-limited community eye hospital setting. METHODS: This retrospective study included patients who received IVB injection at Hetauda Community Eye Hospital between January 2019 and December 2022. INCLUSION CRITERIA: [Formula: see text]1 IVB injection; retinal diagnosis confirmed clinically and by Optical Coherence Tomography (OCT) where available. EXCLUSION CRITERIA: missing baseline Visual Acuity (VA) or OCT,[Formula: see text] month follow-up. Median visual acuity (VA) and central macular thickness (CMT) changes were compared using Wilcoxon signed‑rank test. RESULTS: A total of 418 injections were administered to 247 patients (260 eyes). After excluding those lost to follow‑up, 221 patients (234 eyes) were included in the analysis. Median baseline CMT was 366 μm and improved to 236 μm (p < 0.001). Most patients received one injection (57%) followed by two injections (30%). The median baseline VA was 0.78 log MAR and remained 0.78 log MAR overall (p = 0.108), but subgroup improvements were significant in DME, nAMD, BRVO, and central retinal vein occlusion (CRVO). CONCLUSION: IVB resulted in significant anatomical and functional improvements in patients with retinal diseases. The findings reflect real‑world outcomes in a community‑level eye hospital, where cost barriers limit repeated injections. The limitations of this study include its retrospective design, variable follow‑up, absence of control group, and limited numbers of injections.
BMC Ophthalmol
· 2026 Jun · PMID 42316105
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BACKGROUND: Previous studies with advanced imaging like phase-sensitive optical coherence tomography suggest the trabecular meshwork-Schlemm's canal complex may show subtle motion related to intraocular pressure fluctuat...BACKGROUND: Previous studies with advanced imaging like phase-sensitive optical coherence tomography suggest the trabecular meshwork-Schlemm's canal complex may show subtle motion related to intraocular pressure fluctuations or cardiac rhythm. However, direct visualization of rhythmic motion in the Schlemm's canal region during routine gonioscopy has been undocumented. Here, we report an incidental finding during dynamic gonioscopy, where a retained 10 - 0 suture within Schlemm's canal exhibited subtle, regular back-and-forth movement at the 2-year follow-up after penetrating canaloplasty. CASE PRESENTATION: A 53-year-old man was diagnosed with chronic angle-closure glaucoma in both eyes and had a history of uveitis. His left eye had previously undergone trabeculectomy, but intraocular pressure remained poorly controlled, prompting a subsequent penetrating canaloplasty. During the procedure, a 10 - 0 suture was placed through Schlemm's canal to enhance the conventional outflow pathway. Postoperative follow-up remained stable, and no further glaucoma surgery was needed. At the 2-year postoperative visit, gonioscopy during slit-lamp examination revealed a 10 - 0 suture crossing Schlemm's canal at approximately 1 o'clock in the superior angle. Within a relatively stable visual field, the suture exhibited consistent, rhythmic back-and-forth movement, and this pattern was reliably observed throughout the same examination session. At that time, the anterior chamber was quiet and showed no signs of active inflammation. CONCLUSION: This case reports an incidental gonioscopic finding of subtle, rhythmic movement of a retained 10 - 0 suture within Schlemm's canal 2 years after penetrating canaloplasty. The retained suture may act as a visible marker of local dynamic behavior in Schlemm's canal.
Esen Baris M, Guclu A, Guven S
… +1 more, Palamar M
BMC Ophthalmol
· 2026 Jun · PMID 42316074
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BACKGROUND: Phenylephrine is widely used for pharmacological mydriasis in routine ophthalmic practice. While its vascular and pupillary effects are well established, its influence on anterior segment structures and intra...BACKGROUND: Phenylephrine is widely used for pharmacological mydriasis in routine ophthalmic practice. While its vascular and pupillary effects are well established, its influence on anterior segment structures and intraocular inflammatory parameters remains unclear. This study aimed to evaluate the effects of topical phenylephrine on anterior scleral thickness (AST) and aqueous humor flare levels in healthy eyes. METHODS: This prospective study included the right eyes of 20 healthy volunteers. Topical phenylephrine 2.5% was administered three times at 5-minute intervals. Measurements were obtained 45 min after the final instillation. Nasal and temporal AST were measured at the scleral spur (AST-0) and at 1000 μm (AST-1) and 2000 μm (AST-2) posterior to the scleral spur using anterior segment optical coherence tomography. Aqueous flare levels were assessed using laser flare photometry. Fellow untreated eyes served as controls. RESULTS: At the scleral spur level (AST-0), scleral thickness increased significantly in both nasal and temporal regions following phenylephrine administration (p = 0.0003 and p = 0.01, respectively). At 1000 μm posterior to the scleral spur, temporal AST decreased significantly (p = 0.005), while other changes in AST-1 and AST-2 were not statistically significant. Aqueous flare levels showed an increase after phenylephrine instillation; however, this change was not statistically significant (p = 0.2). No significant changes were observed in the fellow control eyes. CONCLUSIONS: Topical phenylephrine was associated with localized changes in anterior scleral thickness, characterized by thickening at the scleral spur and relative thinning posteriorly. Although aqueous flare levels tended to increase, this effect was not statistically significant and likely reflects a minimal effect size. These findings suggest that phenylephrine may be associated with alterations in scleral configuration without a clinically meaningful impact on intraocular inflammatory status in healthy eyes.
Abnormal uterotubal junction (UTJ) structure is implicated in the pathogenesis of endometriosis and infertility; however, this relationship remains poorly characterized. We quantitatively characterized the orientation of...Abnormal uterotubal junction (UTJ) structure is implicated in the pathogenesis of endometriosis and infertility; however, this relationship remains poorly characterized. We quantitatively characterized the orientation of collagen fiber bundles in the UTJ using optical coherence tomography (OCT). UTJ tissue from nine individuals undergoing hysterosalpingectomy were collected and longitudinally opened to expose the lumen. Volumetric OCT images were acquired from proximal (uterine), middle, and distal (isthmic) UTJ segments. Images were preprocessed to enhance contrast and continuity of fiber bundles. Local fiber bundle orientation was extracted from Sobel-filtered intensity gradients. Orientation values were binned corresponding to the expected alignment of collagen fiber bundle groups in UTJ smooth muscle: longitudinal (0°-30°), oblique (30°-60°), and circumferential (60°-90°). Proportions were plotted as a function of depth, and depth-dependent trends in alignment were compared across UTJ segments using mixed-effects models. Measurements revealed a prominent inner longitudinal muscle layer which emerged proximally and thinned distally, and an outer muscle layer composed of oblique uterine fiber bundles proximally and a mixed oblique-circumferential contribution distally. These findings provide the first quantitative, depth-resolved analysis of UTJ collagen architecture and establish an analytical framework which can support future studies investigating how UTJ structure relates to function and disease.
Proliferative diabetic retinopathy (PDR) is a leading cause of severe visual loss in working-age adults and represents the end stage of chronic neurovascular injury in diabetes. Despite advances in screening and treatmen...Proliferative diabetic retinopathy (PDR) is a leading cause of severe visual loss in working-age adults and represents the end stage of chronic neurovascular injury in diabetes. Despite advances in screening and treatment, including panretinal photocoagulation (PRP), intravitreal anti-vascular endothelial growth factor (anti-VEGF) agents and pars plana vitrectomy (PPV), outcomes remain heterogeneous: many eyes stabilise, whereas others progress to vitreous hemorrhage, tractional retinal detachment or neovascular glaucoma despite apparently adequate therapy. This review synthesises current knowledge on the pathophysiology, morphological phenotypes and treatment paradigms of PDR, with a specific focus on predictors of onset, progression, and recurrence. PDR is contextualised as a multifactorial neurovascular and inflammatory disease, integrating data on hypoxia-driven angiogenesis, glial activation, microvascular rarefaction, neurodegeneration, and vitreoretinal interface remodelling. Histopathological and multimodal imaging characteristics of neovascular complexes and the vitreoretinal interface are described, highlighting how phenotypes on colour fundus photography, widefield fluorescein angiography, optical coherence tomography (OCT), and OCT angiography relate to ischemic burden and clinical behaviour. Systemic, ocular, imaging, biomarker, and genetic factors associated with progression from non-proliferative diabetic retinopathy to PDR and with progression within established PDR after PRP, anti-VEGF therapy, and PPV are critically appraised. Across modalities, younger age, diabetes duration, poor glycaemic control, renal disease, extensive non-perfusion, high neovascular burden, complex fibrovascular proliferation, and incomplete or unsustained treatment consistently emerge as determinants of guarded outcomes. Outstanding gaps in mechanistic understanding, risk stratification, regenerative therapy, and implementation are identified, alongside a proposed research agenda aimed at delivering mechanistically grounded risk-prediction tools and disease-modifying interventions for PDR.
This report presents a rare case of Wyburn-Mason syndrome (WMS) with documented progression of both retinal and cerebral arteriovenous malformations (AVMs) over 5 years, emphasizing the clinical significance of ocular ch...This report presents a rare case of Wyburn-Mason syndrome (WMS) with documented progression of both retinal and cerebral arteriovenous malformations (AVMs) over 5 years, emphasizing the clinical significance of ocular changes that may be associated with cerebral involvement. A 6-year-old girl initially presented with unilateral blurred vision and was diagnosed with WMS due to a retinal AVMs in her left eye. Initial brain magnetic resonance imaging (MRI) showed no intracranial AVMs. During routine follow-up, the patient developed headaches and nausea after 4 years, leading to the diagnosis of a cerebral AVM, which was treated with Gamma Knife radiosurgery. Concurrently, fundus examination revealed progressive retinal AVM changes, accompanied by decreased best-corrected visual acuity and worsening optical coherence tomography findings.The parallel progression of retinal and cerebral AVMs highlights the dynamic nature of vascular malformations in WMS. This case underscores that vascular anomalies in WMS may evolve over time and may not remain isolated to a single organ. Progressive retinal AVM changes can signal potential cerebral involvement. Therefore, any ocular progression in WMS warrants timely neuroimaging, even if previous scans were normal. Reporting such rare cases can aid in improving early diagnosis and follow-up strategies in WMS.
Carter KJ, Smith JD, Huang AS
… +9 more, Stern C, Kramer LA, Hasan KM, Chen X, Martin BA, Young M, Brunstetter TJ, Macias BR, Laurie SS
JAMA Ophthalmol
· 2026 Jun · PMID 42313423
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IMPORTANCE: Crewmembers on long-duration spaceflight missions are at risk of developing mild to moderate optic disc edema and ventricular volume expansion. The effect of repeat exposures on ocular and brain tissues is un...IMPORTANCE: Crewmembers on long-duration spaceflight missions are at risk of developing mild to moderate optic disc edema and ventricular volume expansion. The effect of repeat exposures on ocular and brain tissues is unknown and needs to be better understood for astronauts flying multiple missions. OBJECTIVE: To evaluate whether a second exposure to spaceflight or a spaceflight analog is associated with larger changes in optic disc edema or brain ventricular volume expansion. DESIGN, SETTING, AND PARTICIPANTS: Peripapillary total retinal thickness (TRT) extending from the Bruch membrane opening to 250 µm was quantified using optical coherence tomography imaging before and during spaceflight or the spaceflight analog head-down tilt bed rest (HDTBR). Magnetic resonance imaging was performed before and after spaceflight or HDTBR to quantify changes in brain volumetrics. Included were astronauts and participants in HDTBR from the International Space Station or German Aerospace Center :envihab facility. Study data were analyzed from November to December 2025. EXPOSURES: Two spaceflight missions of approximately 6 months or 2 HDTBR campaigns of 30 to 60 days in duration. MAIN OUTCOMES AND MEASURES: The change in TRT (∆TRT) from preflight/pre-HDTBR to approximately 30 days before return to Earth or 30 days into HDTBR and the change in lateral ventricular volume (∆LVV) from preexposure to postexposure. Data were analyzed to determine if repeat exposure to spaceflight or HDTBR augmented the magnitude of change from the first exposure to the second. RESULTS: This study included a total of 7 astronauts (mean [SD] age, 43 [5] years; 5 male [71%]) and 5 participants in HDTBR (mean [SD] age, 35 [9] years; 3 male [60%]). ΔTRT was not different between spaceflight missions (mean difference, -5.6 µm; 95% CI, -15 to 3.7 µm; P = .23) or between HDTBR campaigns (mean difference, 3.1 µm; 95% CI, -3.3 to 9.5 µm; P = .33). ΔLVV was not different between spaceflight missions (mean difference, 0.1 mL; 95% CI, -0.9 to 1.1 mL; P = .78). The 3 participants in HDTBR with magnetic resonance imaging data presented with a similar ΔLVV after each campaign (0.4 vs 0.1, 1.1 vs 0.4, and 0.9 vs -0.2 mL, respectively). CONCLUSIONS AND RELEVANCE: Findings of this case series show that a single repeat exposure to HDTBR or spaceflight did not appear to be associated with an increase in the magnitude of change in ocular or brain structures. Whether these exposures are additive in causing increased long-term functional changes remains unknown. These findings may be used by the space medicine community to guide the prediction of changes that might occur in those who undertake multiple spaceflight missions.
BACKGROUND: Pathogenic variants in the RPE65 gene cause various forms of inherited retinal dystrophies (IRD), which include Leber congenital amaurosis (LCA), early childhood-onset retinal dystrophy (ECORD), and various f...BACKGROUND: Pathogenic variants in the RPE65 gene cause various forms of inherited retinal dystrophies (IRD), which include Leber congenital amaurosis (LCA), early childhood-onset retinal dystrophy (ECORD), and various forms of retinitis pigmentosa (RP). To date, no study has characterised the heterogeneity of RPE65 variants associated with IRD in the Egyptian population. This study aimed to identify RPE65 pathogenic variants in a cohort of Egyptian children with IRD, with implications for gene therapy eligibility. METHODS: A total of 44 patients in the paediatric age group (from birth to 18 years old), from 27 unrelated Egyptian families with non-syndromic IRD, underwent detailed ophthalmic examination, which include electroretinogram (ERG), optical coherence tomography (OCT), and fundus autofluorescence (FAF), and their DNA samples were screened for RPE65 variants using Sanger sequencing. RESULTS: Among the 44 patients studied, 8 (18.2%) harboured disease-causing pathogenic or likely pathogenic biallelic variants in the RPE65 gene. Of these, 47.7% were male and 52.3% female; in all affected individuals, symptom onset preceded the fourth birthday. Four distinct missense variants were identified: three classified as likely pathogenic and one as pathogenic. One variant (p.Phe472Ser) was novel, with no prior reports in the literature or public databases. Affected patients demonstrated visual impairment within the first decade of life. RPE65 variants were mainly associated with nystagmus and markedly reduced rod and cone function on ERG. There was bilateral thinning of outer retinal layers outside the fovea with the disruption of the ellipsoid Zzone (EZ) and retinal pigment epithelium (RPE) layers by OCT, as well as diminished normal fluorescence in fundus autofluorescence testing in patients harbouring disease-causing RPE65 genetic variants. CONCLUSION: RPE65 gene variants account for 18.2% of this selected paediatric IRD cohort and represent an important genetic cause of LCA and ECORD in the Egyptian population. Expanded access to gene therapy trials is critically needed for eligible patients.
PURPOSE: To compare the sectoral inner macular layers thicknesses among eyes with pseudoexfoliation syndrome (PXS), pseudoexfoliation glaucoma (PXG), and healthy controls. METHODS: This cross-sectional study included 27...PURPOSE: To compare the sectoral inner macular layers thicknesses among eyes with pseudoexfoliation syndrome (PXS), pseudoexfoliation glaucoma (PXG), and healthy controls. METHODS: This cross-sectional study included 27 eyes from 14 patients with early pseudoexfoliation glaucoma, 39 eyes from 29 patients with pseudoexfoliation syndrome, and 37 eyes from 19 healthy controls. All eyes underwent spectral-domain optical coherence tomography (SD-OCT) of the macula using the Glaucoma Module Premium Edition of Spectralis SD-OCT (Heidelberg Engineering, Heidelberg, Germany). The sectoral thicknesses of the retinal nerve fiber layer (RNFL), ganglion cell layer (GCL), and inner plexiform layer (INL) were measured. Differences in sectoral thicknesses of the RNFL, GCL, and IPL between groups were evaluated using generalized estimating equations. The diagnostic performance of single and composite macular layers in detecting PXG was assessed using the area under the receiver operating characteristic curve (AUC). RESULTS: There were no significant differences in age or sex between groups (p > 0.05). We observed significant differences in ganglion cell and inner plexiform layer thicknesses in sectors 2-5 between the groups (p < 0.05). Both PXG and PXS eyes showed significant sectoral thinning of the GCL and IPL compared to controls. The ganglion cell complex (GCC) provided the highest AUC for discriminating between PXG eyes, particularly in sector 4. CONCLUSIONS: Early PXG preferentially affects the inner macular layers, particularly the IPL, with sectoral vulnerability. Composite macular layers, such as the GCC, demonstrated modest discriminatory ability and may have adjunctive value in the detection of early glaucoma.
PURPOSE: To compare the functional and anatomical outcomes of the inverted internal limiting membrane (ILM) flap covering and stuffed techniques in primary macular hole (MH) surgery. METHODS: This retrospective case seri...PURPOSE: To compare the functional and anatomical outcomes of the inverted internal limiting membrane (ILM) flap covering and stuffed techniques in primary macular hole (MH) surgery. METHODS: This retrospective case series included 57 eyes that underwent inverted ILM flap surgery by a single surgeon (covering, n = 33; stuffed, n = 24). Best-corrected visual acuity (BCVA) and optical coherence tomography findings, including restoration of the external limiting membrane (ELM) and ellipsoid zone (EZ), were assessed preoperatively and at 1 and 6 months postoperatively. RESULTS: There were no significant differences in preoperative characteristics or MH closure rates between groups. BCVA improved significantly in both groups postoperatively; however, BCVA was significantly better in the covering group at 1 month (P = 0.005) and 6 months (P = 0.001). Restoration of the ELM and EZ was more frequent in the covering group at 1 month (ELM, P < 0.001; EZ, P = 0.002) and 6 months (ELM, P < 0.001; EZ, P = 0.001). CONCLUSION: Although both techniques achieved comparable anatomical closure, the covering method provided superior visual and outer retinal recovery for a wide range of macular holes, including medium-to-large cases. These findings suggest that the covering technique may be preferable as a standard approach for primary MH surgery.