Ophthalmology. Retina最新文献

Purpose: To correlate histopathologic findings in an eye with Jalili syndrome with clinical and imaging results available before enucleation.

Design: Case report with histopathologic analysis.

Subjects: Histopathologic analysis of an enucleated eye from a 63-year-old woman diagnosed with Jalili syndrome.

Methods: Age at diagnosis, symptoms, personal and family history, and genetic testing results and previous retinal imaging were retrieved from the patient file. The ocular specimen was dissected, retinal sections were prepared, and analysis with hematoxylin and eosin staining and fluorescent immunohistochemistry was performed. The histopathologic findings were compared with the patient's imaging results available before enucleation.

Results: The ocular specimen analyzed belonged to a 63-year-old woman with Jalili syndrome, homozygous for the likely pathogenic c.971T>C p.(Leu324Pro) variant in the CNNM4 gene (NM_020184.3). This patient had no light perception bilaterally and suffered from bilateral, painful, severe dry eye, with refractory to conservative treatment for 7 years before enucleation. At 1-month follow-up after enucleation and orbital implant placement, the socket was fully recovered, and a custom ocular prosthesis was adapted. The patient experienced total pain relief, improved quality of life, and a good cosmetic result. The histopathologic analyses revealed loss of photoreceptor cells, accumulation of autofluorescent material in the subretinal space, partial preservation of the inner retinal lamination, Müller glial cell disorganization, and increased number of microglial cells in the nuclear layers.

Conclusions: Our findings highlight the severe nature of this inherited retinal degenerative disease with significant damage to the outer retinal layers, absence of synaptic terminals, and loss of photoreceptors, indicating an advanced disease stage. The presence of microglial cells in the remaining nuclear layers suggests a role in photoreceptor degeneration. This study represents the first comprehensive description of clinical, genetic, imaging, and histopathologic findings in Jalili syndrome.

Financial disclosure(s): The authors have no proprietary or commercial interest in any materials discussed in this article.

Objective: This study evaluated the RID-MyC (Rapid Identification of Mycoses using clustered regularly interspaced short palindromic repeats [CRISPR]) assay, a CRISPR/Cas12a-based diagnostic tool, for its efficacy in diagnosing fungal endophthalmitis (FE) compared with panfungal polymerase chain reaction (PCR) and culture methods.

Design: A comparative cross-sectional study assessing the performance of the RID-MyC assay against established diagnostic modalities for FE.

Subjects: The study included 133 intraocular samples from 117 patients with suspected microbial endophthalmitis.

Methods: The study compared the sensitivity, specificity, positive predictive value, and negative predictive value of the RID-MyC assay against panfungal PCR and culture. The limit of detection for Aspergillus flavus and Candida albicans was determined for both RID-MyC and panfungal PCR across 3 different media: nuclease-free water, aqueous humor, and vitreous humor. Discrepancy analysis was conducted for discordant results, incorporating clinical outcomes and responses to antifungal treatment.

Main outcome measures: The study primarily assessed the sensitivity, specificity, positive predictive value, and negative predictive value for clinical samples. Time to diagnosis was also evaluated.

Results: The RID-MyC assay demonstrated a sensitivity of 88.24% (95% confidence interval [CI], 63.56%-98.54%) and specificity of 93.1% (95% CI, 86.86%-96.98%), with positive predictive value and negative predictive value of 65.22% (95% CI, 48.45%-78.91%) and 98.18% (95% CI, 93.62%-99.50%), respectively. Discrepancy analysis enhanced sensitivity to 90.48% (95% CI, 69.62%-98.83%) and specificity to 96.43% (95% CI, 91.11%-99.02%). The RID-MyC assay was 10- to 1000-fold more sensitive than panfungal PCR in detecting A. flavus and C. albicans in intraocular specimens. The time to diagnosis with the RID-MyC assay was consistently <2 hours.

Conclusions: The RID-MyC assay may advance the rapid and precise diagnosis of FE, with possible relevance to other invasive fungal conditions.

Financial disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Purpose: The progression of geographic atrophy (GA) secondary to age-related macular degeneration is highly variable among individuals. Prediction of the progression is critical to identify patients who will benefit most from the first treatments currently approved. The aim of this study was to investigate the value and difference in predictive power between ophthalmologists and artificial intelligence (AI) in reliably assessing individual speed of GA progression.

Design: Prospective, expert and AI comparison study.

Participants: Eyes with natural progression of GA from a prospective study (NCT02503332).

Methods: Ophthalmologists predicted yearly growth speed of GA as well as selected the potentially faster-growing lesions from 2 eyes based on fundus autofluorescence (FAF), near-infrared reflectance (NIR), and OCT. A deep learning algorithm predicted progression solely on the baseline OCT (Spectralis, Heidelberg Engineering).

Main outcome measures: Accuracy, weighted κ, and concordance index (c-index) between the prediction made by ophthalmology specialists, ophthalmology residents, and the AI algorithm.

Results: A total of 134 eyes of 134 patients from a phase II clinical trial were included; among them, 53 were from the sham arm, and 81 were from untreated fellow eyes. Four ophthalmologists performed 2880 gradings. Human experts reached an accuracy of 0.37, 0.43, and 0.41 and a κ of 0.06, 0.16, and 0.18 on FAF, NIR + OCT, and FAF + NIR + OCT, respectively. On a pairwise comparison task, human experts achieved a c-index of 0.62, 0.59, and 0.60. Automated AI-based analysis reached an accuracy of 0.48 and κ of 0.23 on the first task, and c-index of 0.69 on the second task solely utilizing OCT imaging.

Conclusions: Prediction of individual progression will become an important task for patient counseling, most importantly with the treatments becoming available. Human gradings improved with the availability of OCT. However, automated AI performed better than ophthalmologists in several comparisons. Artificial intelligence-supported decisions improve clinical precision, access to timely care for the community, and socioeconomic feasibility in the management of the leading cause of irreversible vision loss.

Financial disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article.

Purpose: To determine treatment patterns and outcomes of pneumatic retinopexy (PnR) for rhegmatogenous retinal detachments (RRDs).

Design: Retrospective cohort analysis using IRIS® Registry (Intelligent Research in Sight) database.

Participants: Patients with RRD treated by PnR from 2013 to 2022.

Methods: Cases were identified using International Classification of Diseases, Ninth and Tenth Revisions, diagnostic codes. Surgical procedures were identified using Current Procedural Terminology codes for type of RRD repair. Baseline demographic information included age, sex, race and ethnicity, geographic region, smoking status, and health insurance type.

Main outcome measures: Primary outcomes for PnR included single-operation success (SOS) and single-operation failure (SOF), change in visual acuity at 9 to 12 months, rates of complications, rates of secondary procedure after SOF, and outcome by phakic status.

Results: A total of 13 302 unique eyes were analyzed (median age, 64 years; 61.56% male). Overall SOS for primary PnR was 59.82%. The mean best-corrected visual acuity at 9 to 12 months after PnR was logarithm of the minimum angle of resolution 0.44 (95% confidence interval, 0.42-0.46) for SOF eyes, compared with 0.23 (95% confidence interval, 0.22-0.25) for SOS eyes (P < 0.001). Complications of PR included vitreous hemorrhage (9.1%), epiretinal membrane (45.17%), proliferative vitreoretinopathy (0.98%), and endophthalmitis (0.14%). Of the 40.18% of eyes with SOF, 81% required either secondary PnR, scleral buckle, vitrectomy, or complex detachment repair, whereas the remaining eyes required more than one of these secondary procedures. Single-operation success for phakic eyes was 64.50% versus 53.93% for pseudophakic eyes (P < 0.001).

Conclusions: IRIS Registry data reveal clinical outcomes and utilization patterns of PnR for RRD. Overall SOS for primary PnR was 59.82%, which is lower than other cited rates in the literature. Pseudophakic eyes were more likely to fail primary PnR. It is important to counsel patients on risks of the procedure when obtaining informed consent.

Financial disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Purpose: To assess the diagnostic accuracy of B-scan ultrasonography (echography) after open-globe injury (OGI) repair in detecting vitreoretinal pathology, as confirmed by intraoperative inspection during subsequent pars plana vitrectomy (PPV).

Design: Retrospective, single-center, consecutive case series.

Participants: Patients with OGI treated at the University of Iowa Hospitals and Clinics from February 2018 through December 2023 who underwent OGI repair and had at least 1 B-scan performed postrepair but before subsequent PPV.

Methods: B-scans were performed by an experienced echographer and reviewed by the managing vitreoretinal surgeon for the presence of vitreous hemorrhage (VH), retinal tear (RT), retinal detachment (RD), choroidal detachment, and vitreoretinal incarceration. B-scan findings were compared with findings on direct inspection during PPV, which served as the gold standard.

Main outcome measures: Sensitivity, specificity, and positive/negative predictive value of B-scan findings.

Results: The study included 62 eyes of 61 patients, predominantly with severe OGIs (mean presenting logarithm of the minimum angle of resolution visual acuity of 2.52 ± 0.41; 75% with an Ocular Trauma Score of 1 or 2). B-scan had excellent diagnostic accuracy for VH, but, for every other type of vitreoretinal pathology, there were significant false positives, false negatives, or both. B-scan sensitivity was particularly low for vitreoretinal incarceration (11%), RT (32%), and RD (78%).

Conclusions: This study identified much lower diagnostic accuracy of B-scan ultrasonography after OGI for all vitreoretinal pathologies except VH compared with previous, smaller studies that reported perfect accuracy (100% sensitivity and specificity). Ultrasonography provides useful clinical information but should not be solely relied upon to diagnose or rule out severe vitreoretinal pathology that may prompt vitreoretinal referral or PPV after OGI.

Financial disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Purpose: The prevalence of central serous chorioretinopathy (CSCR) among transmasculine, polycystic ovary syndrome (PCOS), and androgen-exposed patients remains largely unexplored. Although these groups involve patients with elevated testosterone levels, previous literature is inconclusive on the influence of testosterone on CSCR. This study aimed to determine the relationship between CSCR and cohorts with exogenous androgen exposure, female-to-male (FTM) transgender individuals, and those diagnosed with PCOS.

Design: Cross sectional study.

Subjects: Patients with CSCR, receiving exogenous androgens, FTM transgender individuals (defined as gender identity disorder [GID], endocrine disorder not otherwise specified, sex-discordant hormone therapy, and FTM surgery), and patients with PCOS.

Methods: An electronic health records platform of >100 million patients was examined for this study. Patients were identified through 10th revision of the International Classification of Diseases and procedural codes. Patients with prior steroid prescriptions, anxiety disorders, and fluticasone use were excluded. Prevalence and prevalence odds ratios (ORs) of comorbid CSCR were calculated using RStudio and 95% confidence intervals (CIs) were calculated.

Main outcome measures: Prevalence, prevalence ORs, and 95% CIs of CSCR.

Results: Among 21  056 patients with CSCR, the mean age was 61 years (standard deviation ± 15), with 67.95% being male. The prevalence of CSCR was highest among those receiving exogenous androgen therapy (24.13 per 1000 patients with CSCR; OR: 5.84, 95% CI: 5.35-6.37). The FTM surgery (OR: 3.04) and sex-discordant hormone therapy (OR: 5.32) cohorts also showed significant associations with CSCR (P < 0.05). Patients with PCOS had a more limited but still significant association (OR: 1.23, 95% CI: 1.013-1.49). Gender identity disorder did not show a significant relationship with CSCR (P > 0.05).

Conclusions: This study, which investigated the associations between FTM transgender, patients with PCOS, and CSCR demonstrates that conditions linked with elevated androgens are associated with higher odds of CSCR. These findings emphasize the value of ophthalmic screenings in these populations, particularly within the transgender health care community.

Financial disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Objective: Proliferative vitreoretinopathy (PVR) is a major cause for failure of retinal detachment (RD) repair. We sought to determine if patients taking systemic methotrexate (MTX) therapy had a lower incidence of PVR.

Design: Multicenter retrospective cohort study.

Participants: Patients aged ≥18 years who were documented in the Sight Outcomes Research Collaborative (SOURCE) repository to have received a diagnosis of RD and have undergone RD repair surgery between 2004 and 2024. We only included patients who had been in the SOURCE system for at least 6 months before the diagnosis date and had no prior record of RD repair surgery. We excluded patients with an unknown laterality of the primary RD repair, history of PVR, proliferative diabetic retinopathy, serous RD, retinal dialysis, or ocular trauma.

Methods: The exposure variable of interest was systemic MTX use, as documented from the medication list. The outcome of interest was the presence of new-onset PVR within 6 months of surgery. Incident PVR was modeled in log binomial regression models that included terms for systemic MTX use and method of primary RD repair. Regression models included inverse probability weights based on propensity scores for systemic MTX use. We conducted similar analyses for other antimetabolite agents (e.g., azathioprine and mycophenolate mofetil).

Main outcome measures: Cumulative incidence of PVR and adjusted risk ratio (RR) of developing PVR within 6 months of the initial RD.

Results: Of the 2674 eligible patients, 48 (1.8%) were taking systemic MTX at the time of RD repair. The 6-month cumulative incidence of PVR after the primary RD was 4.2% for patients taking systemic MTX compared with 9.2% for those not taking MTX (adjusted RR, 0.58; 95% confidence interval [CI], 0.47-0.71). Similar results were found for azathioprine (adjusted RR, 0.28; 95% CI, 0.22-0.37) but not mycophenolate mofetil (adjusted RR, 0.93; 95% CI, 0.77-1.11).

Conclusions: Patients taking systemic MTX or azathioprine were significantly less likely to develop PVR within 6 months of primary RD compared with those not taking MTX or azathioprine.

Financial disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.