Acta Ophthalmologica最新文献

Purpose: To describe an optical coherence tomography (OCT) finding that is highly prevalent in Danon disease.

Methods: Retrospective observational case series at a single centre, combined with a systematic literature review of PubMed and EMBASE for genetically confirmed Danon disease patients with available macular OCT images. Fifty-two macular OCT scans from 29 genetically confirmed Danon disease patients (5 from our institution; 24 from 11 published studies) were included. For each patient, a single foveal-centred macular OCT scan per eye was selected for analysis. Two independent reviewers assessed images for the presence of outer nuclear layer (ONL) hyperreflectivity, with discrepancies resolved by consensus.

Results: Evidence of ONL hyperreflectivity appeared in 39 macular scans (75%). Of the 13 scans without this finding (25%), 10 scans (19%) showed macular atrophy (including bull's-eye maculopathy cases) or cystoid macular oedema that obscured evaluation of outer retinal layers at the fovea, and two scans (4%) used colour-encoded OCT that prevented reliable evaluation of the ONL. In only one scan (2%), ONL hyperreflectivity was absent despite preserved foveal architecture and adequate image quality.

Conclusion: ONL hyperreflectivity is a highly prevalent OCT finding in Danon disease, most evident in young patients without advanced outer retinal atrophy. This feature may serve as a non-invasive finding of early retinal involvement. Longitudinal studies are warranted to confirm its prognostic value.

Purpose: To investigate visual outcomes after surgery for small idiopathic full-thickness macular holes (FTMHs) exploring associated clinical variables.

Methods: Multicentre, retrospective study including eyes with FTMH ≤250 μm treated with anatomically successful vitrectomy with a 12-month follow-up. The primary outcome was the incidence rate of normal vision outcome, defined as a postoperative best-corrected visual acuity (BCVA) ≤0.1 logMAR and to explore clinical variables associated with it. Rates of suboptimal visual outcome (final BCVA >0.3 logMAR) and intermediate visual outcome (final BCVA >0.1 and ≤0.3 logMAR) were considered as secondary outcomes along with associated clinical variables.

Results: Of 539 included eyes, 219 eyes (40.6%) achieved a normal vision outcome. An intermediate visual outcome was shown in 205 eyes (38%) and a suboptimal visual outcome in 115 eyes (21.3%). Vitrectomy with conventional internal limiting membrane (ILM) peeling was performed in 308 eyes (57%), while an inverted flap technique was used in 193 eyes (36%). Thirty-eight eyes (7%) underwent vitrectomy without ILM peeling. Clinical variables associated with normal vision were a better preoperative BCVA and conventional ILM peeling. No ILM peeling vitrectomy proved to be a factor associated with normal vision. Inverted flap technique and a worse preoperative BCVA were associated with suboptimal visual outcome.

Conclusion: Surgical treatment of small FTMHs has to be recommended since an excellent final visual outcome has been shown in 40% of cases. Vitrectomy with conventional ILM peeling should be considered the treatment of choice, while the inverted flap technique would not be advisable. Further studies are needed to confirm the role of vitrectomy without ILM peeling.

Aims to outline the application of neuroeconomics in paediatric myopia prevention, offering a framework for designing public health interventions that target decision-making mechanisms such as intertemporal choice, social preferences and neurohormonal regulation. We synthesized theories and empirical evidence from neuroeconomics, psychology and neuroscience. Multimodal approaches-including behavioural tasks (e.g. delay discounting, Ultimatum Game), functional near-infrared spectroscopy (fNIRS), pupillometry and salivary assays-were used to evaluate how interventions influence neurocognitive processes. Neuroeconomic research reveals that myopia-related behaviours involve neural competition between impulsive and regulatory systems, temporal discounting of future rewards and modulation by social norms and neurohormones (e.g. dopamine, oxytocin). Intervention strategies incorporating immediate incentives, social normative feedback, environmental nudges and reduced cognitive effort show potential in promoting outdoor time and behaviour change. Neuroeconomics provides a novel framework for myopia prevention by targeting neural computation mechanisms. Future research should focus on cross-cultural and developmental validation while addressing ethical and implementation challenges to advance precise and equitable public health strategies.

Agentic artificial intelligence (AI) represents a new generation of intelligent systems capable of autonomous goal-directed reasoning, dynamic decision-making, and coordinated action. Unlike conventional task-specific algorithms, agentic AI systems can perceive, plan, and act within complex healthcare environments with minimal supervision. Ophthalmology, an image-intensive and data-rich specialty, provides an ideal field for exploring this paradigm. This Perspective outlines the conceptual framework of agentic AI, its emerging ophthalmic applications, and the technical, ethical, and regulatory challenges that must be addressed to ensure safe and effective clinical translation. Properly developed, agentic AI has the potential to enable intelligent diagnostic assistants, adaptive surgical partners, and autonomous population health agents; thereby, it has the potential to transform future models of ophthalmic care.

The Central Nervous System (CNS), comprising the brain and the eye, is considered to have a 'privileged' mechanism for dealing with immunological challenge (immune privilege, IP). CNS IP has been revealed through experiments using foreign protein antigens and cell and tissue alloantigens (grafts), but evidence for a role for IP in modulating host-pathogen interactions in the CNS is limited. However, the low frequency of CNS infection in the face of widespread systemic exposure to CNS-tropic infectious agents, together with the high incidence of CNS infection in immunocompromised individuals, suggests that in healthy individuals, the CNS has tightly controlled regulatory mechanisms to protect against infectious agents. Although the naïve healthy brain and retina parenchyma largely lack adaptive immune cells, their border tissues (meninges, uveal tract) contain a full complement of resident immune cells, including CNS-specific regulatory T cells (Tregs), which have a fundamental role in controlling infection in the brain parenchyma. Tregs also underpin ocular IP, particularly of the neural retina. Recent studies report that Tregs are transcriptionally 'customised' to the CNS and function at a distance; that is, are located in niches/hubs around the venous sinuses of the border tissues. T cells resident in the uveal tract probably play a similar role. We propose that Tregs are key drivers of CNS IP and do so by promoting latency of infectious agents.

Congenital aniridia is a rare genetic disorder primarily caused by pathogenic variants of the PAX6 gene. It leads to various panocular anomalies, including aniridia-associated keratopathy (AAK). This review highlights recent insights into its pathogenesis, focusing on clinical staging, microstructural changes in the cornea and molecular dysregulation. We synthesized clinical and experimental findings from large European cohorts, integrating data on over 550 eyes. AAK severity correlates with iris malformation, secondary glaucoma and lens status. In vivo confocal microscopy reveals a reduction in subbasal nerve plexus density, altered keratocyte and endothelial morphology and an increase in Langerhans cell infiltration. RNA and miRNA microarrays, as well as RNA-seq studies, highlight dysregulated miRNAs (such as miR-204-5p and miR-138-5p) and altered expression of PAX6 and keratocyte markers. Limbal fibroblasts show enhanced inflammatory responses and vulnerability to oxidative stress. Advanced AAK is associated with a reduced quality of life. The progression of AAK involves intricate interactions between developmental deficits, inflammation and changes in the limbal microenvironment, suggesting molecular targets for future therapies.

Purpose: To compare retinal vessel oxygen saturations and diameters before, 1 and 3 months after trabeculectomy.

Methods: Retinal oxygen saturations and vessel diameters were obtained using retinal oximetry. The effect of the postoperative intraocular pressure (IOP) decrease on the arteriovenous difference (AV-difference) was evaluated, adjusting for mean defect (MD). The impact of trabeculectomy on AV-difference was compared between lowest (Q1) and highest (Q4) MD quartiles. Paired t-test, linear regression and Welch's t-test were applied.

Results: Of 72 enrolled participants, 64 eyes of 64 participants were included. Arteriolar oxygen saturations were unchanged (97.4 ± 4.9% preoperatively, 98.1 ± 6.0% 1 month [p = 0.053], 98.2 ± 6.8% 3 months postoperatively [p = 0.154]). Venular saturations were also unchanged (62.0 ± 9.5% preoperatively, 61.7 ± 8.0% 1 month [p = 0.505], 61.3 ± 10.6% 3 months postoperatively [p = 0.685]). No significant difference in AV-difference occurred. Arteriolar diameters were unchanged 1 month postoperatively (109.7 μm ± 16.2 vs. 110.9 μm ± 19.3 [p = 0.80]) but decreased to 106.0 μm ± 15.7 3 months postoperatively (p = 0.012). Venular diameters increased 1 month postoperatively (152.8 μm ± 21.3 vs. 147.7 μm ± 20.0 [p = 0.034]) but not 3 months postoperatively (148.6 μm ± 24.8; p = 0.893). No association between postoperative IOP decrease and postoperative MD-adjusted AV-difference was found (p = 0.380). No significant change in AV-difference between Q1 and Q4 (p = 0.18) was found.

Conclusion: Retinal oxygen saturations remained stable, whereas vessel diameter changes occurred after trabeculectomy, probably reflecting alterations in IOP and perfusion pressure.

Purpose: BEST1 variants are the third leading cause of inherited retinal dystrophies in Norway. The purpose of this study was to describe the BEST1-associated retinal dystrophy (BEST1-RD) population genetically and clinically, and to determine the prevalence of BEST1-RD in Southern and Eastern Norway.

Methods: This registry-based study used the Oslo University Hospital Inherited Retinal Disease registry for genetic data and extracted clinical data from medical records.

Results: Sixty patients were included. The prevalence of BEST1-RD in Southern and Eastern Norway was between 1:64 600 and 1:43 700. Forty-one patients were diagnosed with Best's vitelliform macular dystrophy (BVMD), 15 with autosomal recessive bestrophinopathy (ARB) and 4 with autosomal dominant vitreoretinochoroidopathy (ADVIRC). The two most common genotypes were c.403G>A and c.89A>G. These variants were associated with BVMD and a later age of onset compared with other BVMD-associated genotypes.

Conclusion: The prevalence of BEST1-RD in Southern and Eastern Norway was between 1:64 600 and 1:43 700. BVMD patients carrying c.403G>A or c.89A>G had a later age of onset than BVMD patients carrying other variants.

Purpose: Managing ocular diseases often requires frequent eye drop administration, which can challenge patient compliance. A long-acting eye drop technology using an amorphous synthetic silica composite was developed to address this. Our study aimed to assess the safety and tolerability of the Silica Eye Drop platform in healthy volunteers over 15 days.

Methods: Twelve healthy volunteers participated in a randomized, double-blinded, placebo-controlled trial of the Silica Eye Drop Product, containing no active substance. Participants received one drop in one eye daily for 13 days, with the other eye serving as an untreated control. Safety and tolerability were evaluated through various examinations at multiple time points. Ocular discomfort was assessed with a questionnaire at these times, and additional evaluations of lens, vitreous body, visual acuity (BCVA), ocular protection index (OPI), and intraocular pressure (IOP) were performed at t0 and D15.

Results: No significant differences in ocular metrics between treated and untreated eyes were observed after 15 days of Silica Eye Drop application (IOP: control 14.1 ± 2.02 mmHg, treated 13.6 ± 1.75 mmHg; BCVA: control 1.22 ± 0.16, treated 1.24 ± 0.15; OPI: control 1.66 ± 0.43, treated 1.63 ± 0.40). Questionnaire responses indicated that 68% of volunteers experienced mild discomfort during the product application, while 32% noted moderate discomfort. The average pleasantness score was 4.9 ± 1.83 using a 10-point scale, indicating acceptable tolerability of Silica Eye Drops.

Conclusions: The findings suggest that Silica Eye Drops are safe and well-tolerated by study subjects when used once daily. This supports further developing sustained release topical ocular products for delivering pharmacological treatments in various eye conditions.

Objective: To assess the adherence of glaucoma surgical and laser studies to WGA guidelines for reporting glaucoma surgery studies, analyse trends in adherence over time and explore associations between adherence and study characteristics.

Methods: Systematic review (PROSPERO:CRD42023394477) of glaucoma surgical and laser studies published between 2010 and 2023 in PubMed/MEDLINE and EMBASE. Eligible studies included RCTs, non-randomized comparative and prospective observational designs (>100 eyes). Two reviewers independently extracted data across five domains: Methodology, Definition of success, Ethics, Postoperative complications and Statistical reporting. Temporal trends and associations with study features were analysed using linear regression.

Results: Two hundred and fifty-six studies were included, 75% of which were published in Q1-Q3 journals. Mean overall adherence was 47% ± 9.2%. Domain-level adherence was highest in Ethics (61% ± 20%), followed by Postoperative complications (50% ± 22%), Statistical reporting (48% ± 18%), Methodology (44% ± 12%) and Definition of success (30% ± 13%). No significant differences (p > 0.06) were observed in overall adherence for studies from Europe, Asia, Oceania or the Middle East. Studies involving cataract surgery for angle-closure disease (est. = -10% [-19%, -2.2%], p = 0.014) and laser trabeculoplasty (est. = -7.1% [-11%, -3.5%], p < 0.001) had lower adherence compared with trabeculectomy, while MIGS studies showed no difference (p = 0.45). Visual field progression was reported in only 3% of studies, while various anatomical outcomes (e.g. bleb morphology) were reported in 0%-24% of studies.

Conclusion: Current literature shows poor adherence to WGA guidelines across both traditional and newer glaucoma surgeries, reflecting inadequate reporting and outdated recommendations. Evidence-based updates, broader consensus and stronger implementation are needed to ensure standardized and meaningful reporting.