Background/Objectives: Glaucoma represents a progressive optic neuropathy and is the leading cause of irreversible blindness worldwide. The disease is classified as primary angle-closure glaucoma (PACG) or as primary open-angle glaucoma (POAG) depending on the iridocorneal angle. Although gonioscopy remains the gold standard investigation, anterior segment optical coherence tomography (AS-OCT) may provide important data about these structures, offering a quantitative assessment of the angle. The purpose of this study is to evaluate AS-OCT parameters in patients with primary angle-closure disease (PACD). Methods: This retrospective exploratory study included 75 eyes from 60 patients with PACD, classified as primary-angle closure suspect (PACS), primary-angle closure (PAC) and PACG. Participants underwent comprehensive ophthalmic examination: best-corrected visual acuity (BCVA), gonioscopy, AS-OCT, optic nerve OCT, visual field examination, and specular microscopy. Associations between AS-OCT angle parameters, intraocular pressure (IOP), and ocular biometrics were assessed using correlation analyses with Benjamini–Hochberg correction for the primary analyses and generalized estimating equation (GEE) models to account for inter-eye correlation. Results: In the overall PACD cohort, AS-OCT angle parameters were inversely associated with IOP, with all primary correlations remaining significant after multiple-testing correction. GEE analysis confirmed significant associations for TISA500, AOD500, and AOD750. Exploratory analyses in the PACS, PAC and PACG subgroups were not significant after correction for multiple testing, while anterior segment biometric parameters showed expected intercorrelations. Conclusions: Quantitative angle parameters demonstrated robust inverse associations with IOP in the overall PACD cohort. These exploratory findings support the complementary role of AS-OCT in the PACD anatomical evaluation and warrant confirmation in larger prospective studies to determine their clinical and prognostic relevance.
Background: Non-infectious uveitis (NIU) is an inflammatory ocular condition often associated with systemic immune-mediated disorders. The pathogenesis of NIU is complex and involves genes from the Human Leukocyte Antigen (HLA) class I system. Endoplasmic reticulum aminopeptidase 1 (ERAP1) cleaves antigenic peptides to an optimal length for loading and presentation on HLA I molecules. In this systematic review, we aimed to summarize the current knowledge regarding how susceptibility to developing NIU is linked to single-nucleotide polymorphisms (SNPs) in the ERAP1 gene, a locus well known for its connection to autoinflammatory disorders. Methods: We performed a PRISMA protocol-guided systematic review in various databases. Results: Out of the 311 screened studies, only 12 met the inclusion criteria. Five of them are Genome-Wide Association Studies. We found relevant research for three types of NIU: acute anterior uveitis, Behçet’s uveitis, and birdshot chorioretinopathy. A frequently observed association between ERAP1 SNPs and disease risk was noted when analyzing the HLA-carriers (B*27, B*51, A*29), which points toward an epistatic interaction between ERAP1 and the MHC class I complex. Conclusions: Our findings suggest that ERAP1 gene variation is understudied in relation to NIU. A significant amount of research has also concentrated on risk stratification, and reliable markers for patient selection are needed, especially in view of emerging anti-ERAP therapies.
Background: Anterior ischemic optic neuropathy (AION) is a potentially vision threatening disorder that affects middle-aged and elderly individuals. The pathogenesis of the disease remains incompletely understood. However, the most universally accepted hypothesis suggests that a transient reduction in optic nerve head (ONH) perfusion, secondary to hypovolemia, nocturnal hypotension, or small-vessel disease, results in ischemic infarction of the anterior portion of the optic nerve. Case presentation: We present the case of a 61-year-old male patient with a history of arterial hypertension, type II diabetes mellitus, generalized atheromatosis, femoral bypass and stent implantation for chronic ischemia in his left leg, followed by brachial artery dissection that needed a prompt vascular intervention; he presented visual acuity loss in both eyes (BE), with the left eye (LE) being more affected than the right eye (RE). A complete ophthalmologic check-up was performed, and it revealed best-corrected visual acuity (BCVA) RE 0.5 Snellen, LE light perception, normal intraocular pressure (IOP), BE papillary edema and arteriovenous abnormalities. Visual field (VF) examination revealed RE inferior altitudinal defect and LE preabsolute scotoma. The diagnosis of BE anterior ischemic optic neuropathy and hypertensive retinopathy stage II was formulated. Following the aforementioned surgical procedures meant optimizing the patient’s critical vascular status, subsequent management of NA-AION systemic risk factors, along with implementing important lifestyle changes. No further cardiovascular events occurred, and visual field parameters remained stable at the three-year follow-up. Conclusions: Non-arteritic anterior ischemic optic neuropathy (NA-AION) remains a topic of interest for both ophthalmologists and neurologists worldwide. When confronted with a high-risk cardiovascular patient, a rapid and thorough systemic evaluation may prove beneficial. This management strategy could potentially contribute to maintaining a stable systemic outcome, despite major cardiovascular threats.