Canadian journal of ophthalmology. Journal canadien d'ophtalmologie最新文献

Purpose: To identify genetic variants with prognostic value in uveal melanoma (UM) using targeted next-generation sequencing (NGS) and evaluate their association with metastasis and histologic subtype.

Design: A retrospective observational study.

Methods: Targeted NGS was performed on tumour samples from 69 patients with choroidal melanoma treated by enucleation. Histopathological features and clinical outcomes were reviewed. Cox regression and multivariable logistic regression analyses were used to assess the relationship between genetic variants and metastatic risk and histological subtype, respectively. Internal model validation was performed using bootstrap resampling.

Results: A total of 231 pathogenic variants were identified across 28 genes. In multivariable Cox analysis, larger tumour size (HR = 3.07), and higher mitotic index (HR = 1.31) were significantly associated with increased metastatic risk, along with mutations in BAP1, CHEK2, and DICER1. Internal validation yielded a corrected Harrell's C-index score of 0.801. Logistic regression showed that BAP1 and LRP1B mutations were associated with epithelioid/mixed histology, while SF3B1 mutation was associated with spindle cell morphology.

Conclusions: Mutations in BAP1, CHEK2, and DICER1 are independently associated with poorer prognosis in UM, while SF3B1 defines a distinct histologic subgroup. Routine mutational profiling by targeted NGS may aid in risk stratification and follow-up of UM patients.

Purpose: To examine the incidence and clinical characteristics of concurrent thyroid eye disease (TED) and myasthenia gravis (MG) and identify potential diagnostic clues for this rare coexistence.

Methods: A retrospective observational study included 15 patients diagnosed with both TED and MG between May 2013 and July 2025. The diagnosis of TED was based on Bartley's criteria, and MG was diagnosed using criteria from the Japanese Ministry of Health, Labour, and Welfare. Clinical data, including ocular alignment, eyelid position, thyroid function, antibody profiles, imaging findings, treatment, and outcomes, were reviewed.

Results: Of 6 576 TED patients, 15 (0.23%) were diagnosed with concurrent MG, and 12 (0.18%) had isolated ocular MG (OMG). Ptosis was observed in 9 patients (60.0%), and vertical strabismus was the most common pattern (53.3%). Exotropia, an unusual presentation in TED, was seen in 6 patients (40.0%). Extraocular muscle inflammation was confirmed on magnetic resonance images in 11 patients (73.3%). Steroid pulse therapy, administered to 8 patients (53.3%) for active TED, also improved MG symptoms. At a mean follow-up of 43.8 ± 36.6 months, 10 patients (66.7%) showed significant improvement in ptosis and/or diplopia.

Conclusions: Concurrent TED and MG, while rare, present overlapping features that can complicate diagnosis. Atypical signs, such as ptosis with diurnal variability and exotropia with vertical misalignment in TED patients, should raise suspicion for MG.

Objective: To assess the association between loss to follow-up (LTFU) and risk of increase in cup-to-disc ratio (CDR) among a national registry cohort of patients with primary open-angle glaucoma (POAG).

Design: A retrospective longitudinal cohort study.

Participants: Patients who had a POAG diagnosis in 2014 and had CDR documented in the IRIS Registry (Intelligent Research in Sight) both in 2014 and 2019.

Methods: LTFU was defined as a calendar year or more without an encounter. Log-Poisson regression models were used to estimate the relative risk (RR) and 95% confidence intervals (CIs) for the increase in CDR. A sensitivity analysis was also conducted to address ceiling effects for patients with baseline CDR ≥0.8.

Main outcome measures: An increase by ≥0.2 in CDR from 2014 to 2019.

Results: Among 208,517 patients, 6.9% had an increase by ≥0.2 in CDR from 2014 to 2019. While most patients (81.6%) maintained follow-up every year, 16.1% were LTFU for 1-2 years, and 2.3% were LTFU for 3-4 years. A lapse of 3-4 years was associated with a 15% higher risk of increase in CDR (adjusted RR [aRR] = 1.15, 95% CI: 1.00-1.32) compared to no lapse in care after accounting for age, sex, race, insurance, smoking status, glaucoma severity, baseline intraocular pressure (IOP), and baseline CDR. For patients with CDR ≥ 0.8 at baseline, risk of increase in CDR by ≥0.05 was also associated with LTFU (aRR = 1.34, 95% CI: 1.11-1.60; lapse of 3-4 years compared to no lapse).

Conclusions: LTFU is an independent risk factor for an increase in CDR among patients with POAG.

Introduction: Ocular tumours are detrimental to quality of life and survival. The diagnostic capabilities of artificial intelligence (AI) have increased in the past decade. This systematic review aims to evaluate the diagnostic performance of AI models across external, anterior segment, and posterior segment ocular tumours.

Methods: A systematic literature search of Ovid Embase, MEDLINE, and the Cochrane Library was performed for studies on AI in ocular tumour diagnosis published from January 2000 to January 2025. Quantitative outcomes were diagnostic accuracy, sensitivity, specificity, and the area under the receiver operating characteristic curve. Findings were synthesized using descriptive statistics. The QUADAS-2 tool assessed the risk of bias and applicability.

Results: Of the 1 947 studies screened, 23 studies were included and categorized as external ocular tumour diagnosis (n = 12), anterior segment tumour diagnosis (n = 2), posterior ocular tumour diagnosis (n = 8), or general ocular tumour diagnosis (n = 1). The main AI models used were DenseNet (n = 4) and ResNet models (n = 3). Weighted mean AI accuracy was 91.4% (81.8% to 98.3%) for external ocular tumour diagnosis, 89.8% (78.1% to 99.0%) for posterior segment ocular tumour diagnosis, and 98.5% for anterior segment tumour diagnosis in the only reporting study. Of the 10 studies comparing AI diagnostic accuracy with physicians, 2 reported significantly higher diagnostic accuracy among ophthalmologists (p < 0.05). Quality assessment demonstrated low or unclear risk of bias and applicability concerns in 69.5% of studies.

Conclusions: AI tools are a potential avenue for efficient and accurate ocular tumour diagnosis. Further studies comparing ophthalmologists' diagnostic performance to AI diagnostic performance are needed.

Objective: To validate a newly proposed anatomic staging system for choroidal and ciliary body melanoma, based on tumour volume estimated from routine clinical measurements, and compare its prognostic performance with the American Joint Committee on Cancer (AJCC) 8th edition classification.

Design: A retrospective, multicentre cohort study.

Participants: A total of 5 410 consecutive patients diagnosed with choroidal and/or ciliary body melanoma at 6 European ocular oncology centres.

Methods: Tumours were staged according to both classifications. Prognostic performance was evaluated using competing risk regression, Cox regression, Kaplan-Meier survival analyses, and net reclassification improvement.

Results: The new classification showed better prognostic discrimination than the AJCC system, with a net reclassification improvement of 23%. In competing risk regression, it produced a higher Wald statistic (761 vs 628) and a subdistribution hazard ratio of 1.42 versus 1.22. Cox regression for melanoma-related mortality demonstrated higher hazard ratios, peaking at 24 for the new model compared with 13 for the AJCC classification. Cumulative incidence analyses revealed 15-year metastatic death rates ranging from 7% to 76% with the new system versus 11% to 69% with AJCC, widening the absolute range by 11 percentage points.

Conclusions: This large international validation study demonstrates that the new volume-based classification provides more accurate prognostic stratification for choroidal and ciliary body melanoma. Its improved risk discrimination, using readily available clinical measurements, supports its applicability in clinical practice and potential utility for guiding follow-up and resource allocation.

Objective: Vitreomacular traction is a common presentation that can benefit from surgical intervention. The decision to peel the internal limiting membrane (ILM) is made at the discretion of the operating surgeon. We describe a large cohort of eyes that had surgery with or without ILM peeling to give more evidence for the decision-making process.

Design: A retrospective cohort study.

Participants: Eyes with the diagnosis of vitreomacular traction (VMT) that underwent surgery between January 1, 2016, and January 1, 2025, at a group retina practice in Edmonton, Canada.

Methods: Eyes at a single center underwent vitrectomy surgery for the treatment of VMT with or without peeling of the ILM. Baseline visual and anatomic measures were captured and compared to postoperative findings. The main outcome measures were visual acuity and anatomic outcomes postsurgery. Complication rates were also captured.

Results: A total of 250 surgeries were performed during the study period. There was a significant improvement in vision in all eyes (0.19 logMAR). There was no difference in visual improvement when comparing ILM peeling versus ILM sparing. There was better anatomical resolution in cases that had sparing of the ILM. Complication rates were low with no difference in secondary macular hole formation when comparing ILM peeling to ILM sparing.

Conclusions: Pars plana vitrectomy with or without peeling of the ILM is an effective treatment for symptomatic VMT. There may be better anatomic preservation with sparing of the ILM secondary to less surgical manipulation. Complication rates are low regardless of surgical technique.

Objective: To evaluate whether age ≥80 years independently influences outcomes after endoscopic dacryocystorhinostomy (DCR) for primary acquired nasolacrimal duct obstruction (NLDO).

Design: A retrospective cohort study.

Participants: Three hundred forty-six consecutive adults underwent standardized endonasal DCR between 2011 and 2023; 31 were ≥80 years.

Methods: Preoperative comorbidities, intraoperative variables and postoperative course were prospectively recorded. Outcomes-ostium patency, symptom relief, complications and revision-were assessed at a median of 12 months (IQR 6-24). Kaplan-Meier curves and multivariable Cox proportional-hazards models identified independent predictors.

Results: Octogenarians had more hypertension (64.5% vs 26.0%; p < 0.001) and hypothyroidism (25.8% vs 7.3%; p = 0.003). Silicone intubation was less common in this group (32.3% vs 54.0%, p = 0.021) but did not affect outcomes. Anatomical success was 83.9% in octogenarians versus 84.1% in younger adults (p = 0.97); functional success was 74.2 % versus 76.2% (p = 0.81). Complication (12.9 % vs 16.2 %; p = 0.64) and revision (3.2 % vs 4.1 %; p = 0.78) rates, as well as 24-month event-free survival, did not differ. Age ≥80 years was not an independent predictor of failure (HR: 0.93, 95% CI: 0.44-1.98).

Conclusions: Despite greater systemic morbidity, very elderly patients achieved safety and efficacy equivalent to younger adults. Chronological age alone should not preclude endoscopic DCR; these real-world data support offering minimally invasive lacrimal surgery and -evidence-based counseling to an aging population.