Ocular Immunology and Inflammation最新文献

Introduction: Mevalonate Kinase Deficiency (MKD), which includes the clinical phenotype known as Hyperim munoglobulin D Syndrome (HIDS), is an autosomal recessive autoinflammatory disorder caused by mutations in the MVK gene. While typically characterized by childhood-onset recurrent febrile episodes and systemic symptoms like lymphadenopathy and abdominal pain, ocular involvement is usually limited to conjunctivitis. Uveitis is a rare manifestation, often associated with more severe forms of the disease.

Case presentation: This report describes a 28-year-old male who presented with bilateral, recurrent anterior uveitis and vitritis. Although the patient reported self-limiting febrile episodes during childhood, the presentation of ocular inflammation in adulthood as the primary symptom posed a significant diagnostic challenge. Initial treatment with topical and systemic corticosteroids provided only temporary relief, with the patient developing cystoid macular edema and further recurrences. A multidisciplinary evaluation and genetic testing confirmed the diagnosis of HIDS. Following the diagnosis, the patient was started on targeted anti-IL-1 therapy (anakinra or canakinumab). This intervention led to a significant improvement in symptoms and was essential in halting recurrences and preventing chronic ocular damage.

Conclusion: Recurrent uveitis, even in adult patients, should prompt the investigation of rare autoinflammatory syndromes. A timely genetic diagnosis and a multidisciplinary approach are crucial for initiating targeted biological treatments, which offer a superior visual and systemic prognosis compared to conventional therapies.

Purpose: To evaluate central retinal sensitivity in patients with initial-onset acute uveitis associated with Vogt-Koyanagi-Harada (VKH) disease treated within (early presentation) or outside (late presentation) the therapeutic window of opportunity after discontinuation of immunosuppressive therapy without relapse of inflammation.

Methods: In this retrospective study, 19 patients (38 eyes) presented in the phase preceding anterior segment (AS) inflammation (early presentation) and 17 patients (33 eyes) had AS inflammation at presentation (late presentation). MP-1 microperimetric evaluation of retinal sensitivity in the central 12 degrees was assessed at last follow-up after treatment.

Results: The median follow-up period, duration of treatment, and interval between discontinuation of treatment and last follow-up were 20, 16.5, and 6 months, respectively. None of the eyes in the early presentation group developed "sunset glow fundus" (SGF), whereas in the late presentation group, 81.8% of the eyes developed SGF (p < 0.001). Mean retinal sensitivity was significantly worse in the late presentation group and in the eyes that developed SGF (p < 0.001 for both comparisons).

Conclusions: Prompt institution of effective immunosuppressive therapy within the therapeutic window of opportunity preserves photoreceptor function.

Anterior uveitis, in which the anterior chamber is the primary site of inflammation, is the most frequently encountered form of uveitis. However, several non-neoplastic entities can closely mimic its clinical presentation, posing significant diagnostic challenges. This narrative review focuses on these non-malignant conditions that simulate anterior uveitis and may mislead clinicians in routine practice. Differentiating true inflammatory cells from pigment granules in the anterior chamber can be difficult, often leading to misdiagnosis. Disorders such as Bilateral Acute Iris Depigmentation (BADI) and Bilateral Acute Iris Transillumination (BAIT) may present with similar findings and must be evaluated carefully. Toxic Anterior Segment Syndrome (TASS) represents another important mimic, manifesting as acute sterile inflammation with corneal edema. Additionally, Retinitis Pigmentosa and old retinal detachment may present with anterior uveitis-like features, further complicating diagnosis. Like malignant masquerades, these non-neoplastic entities demand a high index of suspicion. A meticulous ocular examination, aided by ancillary investigations, when necessary, is vital for accurate differentiation. Recognizing these mimickers is essential to avoid inappropriate anti-inflammatory therapy and ensure appropriate management.

Purpose: To report two cases of vasoproliferative-like retinal tumor (VLRT) associated with Behçet's syndrome (BS), highlighting their contrasting clinical courses and management strategies, supported by multimodal imaging.

Methods: This is a retrospective description of two patients with BS who developed VLRTs. Case 1 involved a 40-year-old woman with a 33-year history of BS, followed for 18 months after VLRT detection. Case 2 involved a 16-year-old boy with a 5-year history of BS, followed for 4 months after incidental VLRT detection. Multimodal imaging included widefield fundus photography, fluorescein angiography, and optical coherence tomography.

Results: Case 1 developed an exudative VLRT that responded transiently to three monthly intravitreal bevacizumab injections with adjuvant photocoagulation, but recurred within one month, requiring systemic immunosuppression, a switch to aflibercept, and planned cryotherapy. In contrast, Case 2's lesion remained stable and asymptomatic under adalimumab therapy, with cryotherapy planned due to the lesion's characteristics.

Conclusion: VLRTs can occur in BS irrespective of prior inflammatory control and may follow variable clinical courses. These cases highlight the importance of widefield imaging surveillance in BS and suggest that optimal management may require individualized combinations of anti-VEGF therapy, ablative procedures, and systemic immunosuppression.

Background: Multiple studies have associated PTGER4 polymorphisms with susceptibility to several autoimmune diseases, particularly ankylosing spondylitis (AS)-a condition strongly linked to the onset of acute anterior uveitis (AAU). Given this association, we investigated whether PTGER4 variants are associated with AAU susceptibility in Chinese populations.

Methods: To identify PTGER4 disease susceptibility loci, we recruited 904 healthy subjects (AS-AAU-) and 402 AAU patients (AAU+AS-). Genotyping used the MassArray system (iPLEX Gold). SNP allele and genotype frequency differences between groups were assessed with chi-square tests. To account for multiple comparisons, we applied the Bonferroni correction. Additionally, haplotype analysis and stratified analysis were conducted to further explore potential genetic relationships.

Results: The two PTGER4 single nucleotide polymorphisms (SNPs) loci (rs10440635, rs4133101) exhibited no significant correlation with susceptibility to AAU. No significant differences in haplotype frequencies were observed between AAU groups and controls following stratified analysis.

Conclusion: Our findings demonstrate that the two loci, rs10440635 and rs4133101 in PTGER4, were not found to be associated with susceptibility to AAU in this population. Specifically, for rs10440635, the odds ratio (OR) was 0.924 (95% CI: 0.757-1.128, p = 0.438), and for rs4133101, the OR was 0.918 (95% CI: 0.777-1.085, p = 0.314). Even after stratifying the analysis by HLA-B27 status, no statistically significant association was observed. To further elucidate the potential role of PTGER4 in these conditions, additional studies with larger sample sizes, broader genetic variants, and more diverse ethnic populations are warranted.contribution of PTGER4 to these diseases.

Purpose: To quantify anterior-segment remodelling and pupillary behaviour in unilateral Fuchs uveitis syndrome (FUS) and to evaluate the diagnostic utility of anterior-segment metrics.

Methods: Single-centre, retrospective, paired-eye study of 42 patients with unilateral FUS was conducted. Each patient's FUS eye was compared with the contralateral clinically healthy eye. Anterior-segment parameters (K1, K2, Kmax, central corneal thickness, anterior chamber depth (ACD), anterior chamber volume, iridocorneal angle (ICA)) were obtained with a Scheimpflug system. Static pupillometry recorded pupil diameter under scotopic (0.04 lx), mesopic (4 lx), and photopic (40 lx) conditions. The discriminative performance of parameters was assessed by receiver-operating characteristic (ROC) analysis.

Results: FUS eyes showed a wider ICA and deeper ACD (p < 0.001, for each). K2 and Kmax were steeper in FUS (both p < 0.001). On pupillometry, the photopic pupil was larger in FUS (p = 0.001), whereas scotopic and mesopic diameters were comparable (p = 0.78 and 0.64, respectively). The mesopic to photopic constriction amplitude was reduced in FUS (p = 0.002); the scotopic to photopic amplitude was borderline (p = 0.061), and scotopic to mesopic was not different (p = 0.739) between eyes. In ROC analysis, ACD discriminated FUS from fellow eyes with an AUC of 0.747 (95% CI, 0.638-0.846); the cutoff was 3.05 mm, with a sensitivity of 0.67 and a specificity of 0.79.

Conclusions: Unilateral FUS exhibits a coherent structural-functional signature: wider angles and deeper ACD, axis-selective anterior steepening, and attenuated photopic constriction with a larger photopic pupil. Combining Scheimpflug anterior-segment metrics with standardized pupillometry provides practical, adjunctive markers that may strengthen diagnostic confidence and sharpen hypotheses on FUS pathophysiology.

Purpose: To evaluate the outcomes of a standardized 12-week oral valganciclovir regimen in Korean patients with CMV anterior uveitis and to identify predictors of recurrence.

Methods: Eighteen eyes with PCR-confirmed CMV anterior uveitis were retrospectively analyzed. All patients received oral valganciclovir 900 mg twice daily for 6 weeks followed by 450 mg twice daily for 6 weeks, then were maintained on 0.15% topical ganciclovir ointment. Clinical parameters including intraocular pressure (IOP) and corneal endothelial cell density (ECD) and recurrence were evaluated.

Results: Median age was 51 years; 86.3% were male. During oral therapy, all patients achieved resolution of inflammation and keratic precipitates, with IOP control and reduction in glaucoma medications. No relapse occurred during treatment, but 13 patients (72.2%) recurred after discontinuation, median 4 weeks. Lower baseline and final ECD were seen in recurrence cases. Higher IOP at week 1 was significantly associated with recurrence (p = 0.047). Among relapsed patients, repeated oral therapy frequently led to further relapse, whereas compounded 2% topical ganciclovir achieved sustained remission in most.

Conclusions: A standardized 12-week oral valganciclovir regimen was effective for induction but relapse after discontinuation was common. Early IOP response may predict recurrence, and prolonged maintenance with 2% topical ganciclovir could provide a practical option for high-risk patients.

Purpose: To demonstrate the influence of treatment with immunomodulatory therapy (IMT) on clinical and imaging findings in patients with sarcoidosis-associated choroidal neovascularization (CNV).

Methods: A retrospective chart review of patients diagnosed with sarcoidosis-associated CNV was performed. Clinical features, including number of intravitreal injections, best corrected visual acuity (BCVA), intraocular pressure (IOP), were collected prior to, during, and following IMT optimization. Multimodal imaging was qualitatively reviewed at baseline, post-injection therapy, and 1-year post IMT therapy. Metrics automatically generated by the Zeiss FORUM software platform were acquired for comparison across treatment timepoints.

Results: Sixteen eyes (10 patients) were analyzed. There was a median follow-up time of 34.5 months from diagnosis. Patients experienced a decrease trend in mean intravitreal injections per 12 months between baseline (1.17), active IMT (0.82), and optimized IMT (0.26). Median BCVA trended towards improvement from 20/50 to 20/35 (p = 0.9387) from baseline to 12 months of IMT. There was a decreasing trend in median values of central subfield thickness across (270 vs 268.5 vs 263.5; p = 0.8802), macular cube volume (10.65 vs 10.4 vs 10.25; p = 0.492), and average macular cube thickness (296.5 vs 290 vs 284; p = 0.4483) across sequential timepoints.

Conclusions: Despite variability in the time to presentation, patients experienced trends toward qualitative and quantitative recovery on clinical and imaging metrics when starting on IMT. This improvement led to fewer intravitreal injections, reducing associated procedural risk and improving outcomes. Unusual CNV should be investigated to rule out an underlying inflammatory cause.

Purpose: To identify the clinical characteristics of uveitis that are associated with an increased risk of developing CNS inflammatory diseases following the onset of uveitis.

Methods: We analyzed a cohort of patients referred by the Ophthalmology Department for non-infectious and non-purely ophthalmologic-related uveitis to the Internal Medicine Department of Cochin Hospital (Paris, France) between 2009 and 2014 for further diagnostic work-up.

Results: Among 175 patients, 24 (13.7%) patients had inflammatory lesions of the CNS. Sixteen (9.1%) patients had symptomatic CNS disease. Seven (4%) patients developed the neurological disease after the onset of uveitis (multiple sclerosis n = 4, neurosarcoidosis n = 3), over a median follow-up of 9.4 (7.6-11.4) years. Characteristics of uveitis associated with symptomatic CNS disease were the presence of snowballs (85.7% vs. 25.8%, aOR 12.8 [2.0-248.9], p < 0.01), intermediate or posterior location (100% vs. 68.3%, OR 16.4 [1.95-2148.7], p = 0.01), insidious-onset (57.1% vs. 25.3%, OR 3.9 [0.6-27.8], p = 0.08), multifocal choroiditis (42.9% vs. 11.9%, aOR 2.6 [0.5-12.1], p = 0.05), and recurrence of uveitis (100% vs 56.5%, OR 6.9 [0.7-929.4], p = 0.10). The presence of at least three of these characteristics was associated with a higher risk of developing a symptomatic CNS disease (OR 9.1 [95% CI, 1.02-1201.0], p < 0.01).

Conclusion: The association between uveitis and CNS inflammatory disease is frequent and some clinical characteristics of uveitis are associated with an increased risk of developing a symptomatic CNS inflammatory disease.

Purpose: Case report.

Methods: We report a rare case of exogenous endophthalmitis following intravitreal anti-VEGF injection in a 75-year-old woman with silicone punctal plugs for refractory dry eye. The patient presented 24 hours after injection with acute vision loss and ocular pain. Despite initial broad-spectrum topical therapy, her condition deteriorated, and ultrasonography confirmed evolving endophthalmitis. 23 G pars plana vitrectomy with intravitreal antibiotics was performed, revealing extensive purulent material.

Results: Microbiological cultures from aqueous humour, vitreous aspirate, and explanted punctal plugs all grew Streptococcus oralis, an oral commensal. Postoperatively, inflammation resolved but vision remained limited to hand motion.

Conclusion: This case highlights the potential role of punctal plugs as reservoirs for bacterial colonization and a novel risk factor for intraocular infection after intravitreal therapy. Awareness of this association may prompt clinicians to assess the presence of punctal plugs prior to ocular procedures and consider individualized management to reduce the risk of endophthalmitis.