The study population contains 145 patients who were prospectively recruited for coronary CT angiography (CCTA) and fundoscopy. This study first examined the association between retinal vascular changes and the Coronary Artery Disease Reporting and Data System (CAD-RADS) as assessed on CCTA. Then, we developed a graph neural network (GNN) model for predicting the CAD-RADS as a proxy for coronary artery disease. The CCTA scans were stratified by CAD-RADS scores by expert readers, and the vascular biomarkers were extracted from their fundus images. Association analyses of CAD-RADS scores were performed with patient characteristics, retinal diseases, and quantitative vascular biomarkers. Finally, a GNN model was constructed for the task of predicting the CAD-RADS score compared to traditional machine learning (ML) models. The experimental results showed that a few retinal vascular biomarkers were significantly associated with adverse CAD-RADS scores, which were mainly pertaining to arterial width, arterial angle, venous angle, and fractal dimensions. Additionally, the GNN model achieved a sensitivity, specificity, accuracy and area under the curve of 0.711, 0.697, 0.704 and 0.739, respectively. This performance outperformed the same evaluation metrics obtained from the traditional ML models (p < 0.05). The data suggested that retinal vasculature could be a potential biomarker for atherosclerosis in the coronary artery and that the GNN model could be utilized for accurate prediction.

Objectives: To present the clinical features of and diagnostic methods used for macular coloboma (MC), and to analyze the factors associated with best-corrected visual acuity (BCVA) in patients with MC.Methods: A systematic review using the MEDLINE (PubMed), EMBASE, LILACS, and Cochrane databases was performed. The factors associated with BCVA were analyzed.Results: A total of 21 patients (mean age at diagnosis, 18.1 ± 14.6 years) with 36 eyes affected by MC (5 unilateral, 16 bilateral) were included in the study. All 21 patients (100%) had undergone a good-quality fundus examination. The size of the MC lesions ranged from 1.0 × 1.2 to 4.0 × 4.0 disc diameters (DD). Twenty-seven (73%) eyes had pigmented MC, seven (19%) had non-pigmented MC, and one (3%) had an unspecific type. The diagnosis was confirmed using spectral-domain optical coherence tomography (SD-OCT) in 16 (43.2%) eyes. A positive correlation was found between BCVA and the type of MC (β = 0.876, p = .006) and abnormal eye movement (β = 0.087, p = .018), and a negative correlation was found between BCVA and a contributory medical history of ventricular septal defect (β = -0.327, p = .001).Conclusions: Pigmented MC was the most common type and had the highest possibility of causing impaired vision in the affected eyes. Additionally, joint examinations should be applied for diagnostic confirmation of MC. Furthermore, fundoscopy, electroretinogram, electrooculography, fundus fluorescein angiography, and SD-OCT are all critical for differential diagnosis of MC-like lesions.

Non-infections uveitis in humans is an autoimmune disease of the retina and uvea that can be blinding if untreated. Its laboratory equivalent is experimental autoimmune uveitis (EAU) induced in susceptible rodents by immunization with retinal antigens and described elsewhere in this series (Agarwal et al., Methods Mol Biol, 900:443-469, 2012). Evaluation and quantitation of the disease is usually performed by fundus examination and/or histopathology, which provide limited information on structural and no information on functional changes as disease progresses. Here, we describe methods for systematic evaluation of disease using noninvasive clinical assessments by fundus examination and photography, optical coherence tomography, and functional evaluation by electroretinography, which are then compared to histopathology. Using these methodologies, we demonstrate that clinical variants of disease can be accurately evaluated both clinically and functionally, facilitating longitudinal follow-up and providing information that cannot be obtained by fundoscopy and histology alone. These methodologies can be useful to obtain additional information and to evaluate effects of therapeutic modalities under investigation.

CRISPR/Cas9 genome engineering is currently the leading genome surgery technology in most genetics laboratories. Combined with other complementary techniques, it serves as a powerful tool for uncovering genotype-phenotype correlations. Here, we describe a simplified protocol that was used in our publication, CRISPR Repair Reveals Causative Mutation in a Preclinical Model of Retinitis Pigmentosa, providing an overview of each section of the experimental process.