Stargardt atrophy and geographic atrophy (GA) represent pivotal endpoints in FDA-approved clinical trials. Predicting atrophy progression is crucial for evaluating drug efficacy. Fundus autofluorescence (FAF), the standard 2D imaging modality in these trials, has limitations in patient comfort. In contrast, spectral-domain optical coherence tomography (SD-OCT), a 3D imaging modality, is more patient friendly but suffers from lower image quality. This study has two primary objectives: (1) develop an efficient predictive modeling for the generation of future FAF images and prediction of future Stargardt atrophic (as well as GA) regions and (2) develop an efficient predictive modeling with advanced 3D OCT features at ellipsoid zone (EZ) for the comparative performance in the generation of future enface EZ maps and prediction of future Stargardt atrophic regions on OCT as on FAF. To achieve these goals, we propose two deep neural networks (termed ReConNet and ReConNet-Ensemble) with recurrent learning units (long short-term memory, LSTM) integrating with a convolutional neural network (CNN) encoder–decoder architecture and concurrent learning units integrated by ensemble/multiple recurrent learning channels. The ReConNet, which incorporates LSTM connections with CNN, is developed for the first goal on longitudinal FAF. The ReConNet-Ensemble, which incorporates multiple recurrent learning channels based on enhanced EZ enface maps to capture higher-order inherent OCT EZ features, is developed for the second goal on longitudinal OCT. Using FAF images at months 0, 6, and 12 to predict atrophy at month 18, the ReConNet achieved mean (±standard deviation, SD) and median Dice coefficients of 0.895 (±0.086) and 0.922 for Stargardt atrophy and 0.864 (±0.113) and 0.893 for GA. Using SD-OCT images at months 0 and 6 to predict atrophy at month 12, the ReConNet-Ensemble achieved mean and median Dice coefficients of 0.882 (±0.101) and 0.906 for Stargardt atrophy. The prediction performance on OCT images is comparably good to that on FAF. These results underscore the potential of SD-OCT for efficient and practical assessment of atrophy progression in clinical trials and retina clinics, complementing or surpassing the widely used FAF imaging technique.

The diagnosis of primary open-angle glaucoma (POAG) progression based on structural imaging such as color fundus photos (CFPs) is challenging due to the limited number of early biomarkers, as commonly determined by clinicians, and the inherent variability in optic nerve heads (ONHs) between individuals. Moreover, while visual function is the main concern for glaucoma patients, and the ability to infer future visual outcome from imaging will benefit patients by early intervention, there is currently no available tool for this. To detect glaucoma progression from ocular hypertension both structurally and functionally, and identify potential objective early biomarkers associated with progression, we developed and evaluated deep convolutional long short-term memory (CNN-LSTM) neural network models using longitudinal CFPs from the Ocular Hypertension Treatment Study (OHTS). Patients were categorized into four diagnostic groups for model input: healthy, POAG with optic disc changes, POAG with visual field (VF) changes, and POAG with both optic disc and VF changes. Gradient-weighted class activation mapping (Grad-CAM) was employed for the post hoc visualization of image features, which may be associated with the objective POAG biomarkers (rather than the biomarkers determined by clinicians). The CNN-LSTM models for the detection of POAG progression achieved promising performance results both for the structural and functional models, with an area under curve (AUC) performance of 0.894 for the disc-only group, 0.911 for the VF-only group, and 0.939 for the disc and VF group. The model demonstrated high precision (0.984) and F1-score (0.963) in the both-changes group (disc + VF). Our preliminary investigation for early POAG biomarkers with Grad-CAM feature visualization signified that retinal vasculature could serve as an early and objective biomarker for POAG progression, complementing the traditionally used optic disc features and improving clinical workflows.

Pemphigus vulgaris (PV) is an autoimmune disorder affecting the skin and mucous membranes. The condition may be confused with a number of disorders, including Stevens-Johnson syndrome (SJS), toxic epidermal necrolysis (TEN), and erythema multiforme (EM), all of which are life-threatening. Immunohistological and histochemical analyses remain the optimal methods for differentiating these diseases. There is still insufficient evidence regarding the true incidence rate of ocular disease in PV as well as its distinct clinical types. This report sets to review the case of a 62-year-old male with atypical ocular pemphigus vulgaris and review the literature.

Understanding the effect of single-missense mutations on protein stability is crucial for clinical decision-making and therapeutic development. The impact of these mutations on protein stability and 3D structure remains underexplored. Here, we developed a program to investigate the relationship between pathogenic mutations with protein unfolding and compared seven machine learning (ML) models to predict the clinical significance of single-missense mutations with unknown impacts, based on protein stability parameters. We analyzed seven proteins associated with ocular disease-causing genes. The program revealed an R-squared value of 0.846 using Decision Tree Regression between pathogenic mutations and decreased protein stability, with 96.20% of pathogenic mutations in RPE65 leading to protein instability. Among the ML models, Random Forest achieved the highest AUC (0.922) and PR AUC (0.879) in predicting the clinical significance of mutations with unknown effects. Our findings indicate that most pathogenic mutations affecting protein stability occur in alpha-helices, beta-pleated sheets, and active sites. This study suggests that protein stability can serve as a valuable parameter for interpreting the clinical significance of single-missense mutations in ocular proteins.

Our case report demonstrates the management of a unique penetrating orbital injury. The intraorbital foreign body was an approximately 22 cm long metal dishwasher spring hook lodged into the left orbital apex. An ophthalmological check-up a couple of weeks following the removal surgery discerned the patient had an unprecedented case of orbital apex syndrome. We present this unique case so physicians, medical students, and other emergency and medical professionals can learn about the diagnostic, surgical, and multidisciplinary management necessary to achieve a favorable clinical outcome.

We present a unique case of acute on chronic left frontal sinusitis with an orbital abscess in the left orbit complicated by granulomatosis with polyangiitis and a defect to the structure of the orbit, among the 87 year old patient’s other health-related conditions. Urgent transfer to tertiary care, and diagnostic, surgical, and multidisciplinary management were necessary to achieve a favorable clinical outcome: the eye was left undamaged and no infection spread to the brain. This report also sets out to review the literature.