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Keywords = cup–disc ratio (CDR)

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23 pages, 7043 KB  
Article
BiNeXt-SMSMVL: A Structure-Aware Multi-Scale Multi-View Learning Network for Robust Fundus Multi-Disease Classification
by Hongbiao Xie, Mingcheng Wang, Lin An, Yaqi Wang, Ruiquan Ge and Xiaojun Gong
Electronics 2025, 14(23), 4564; https://doi.org/10.3390/electronics14234564 - 21 Nov 2025
Viewed by 464
Abstract
Multiple ocular diseases frequently coexist in fundus images, while image quality is highly susceptible to imaging conditions and patient cooperation, often manifesting as blurring, underexposure, and indistinct lesion regions. These challenges significantly hinder robust multi-disease joint classification. To address this, we propose a [...] Read more.
Multiple ocular diseases frequently coexist in fundus images, while image quality is highly susceptible to imaging conditions and patient cooperation, often manifesting as blurring, underexposure, and indistinct lesion regions. These challenges significantly hinder robust multi-disease joint classification. To address this, we propose a novel framework, BiNeXt-SMSMVL (Bilateral ConvNeXt-based Structure-aware Multi-scale Multi-view Learning Network), that integrates structural medical biomarkers with deep semantic image features for robust multi-class fundus disease recognition. Specifically, we first employ automatic segmentation to extract the optic disc/cup and vascular structures, calculating medical biomarkers such as vertical/horizontal cup-to-disc ratio (CDR), vessel density, and fractal dimension as structural priors for classification. Simultaneously, a ConvNeXt-Tiny backbone extracts multi-scale visual features from raw fundus images, enhanced by SENet channel attention mechanisms to improve feature representation. Architecturally, the model performs independent predictions on left-eye, right-eye, and fused binocular images, leveraging multi-view ensembling to enhance decision stability. Structural priors and image features are then fused for joint classification modeling. Experiments on public datasets demonstrate that our model maintains stable performance under variable image quality and significant lesion heterogeneity, outperforming existing multi-label classification methods in key metrics including F1-score and AUC. Also, our approach exhibits strong robustness, interpretability, and clinical applicability. Full article
(This article belongs to the Section Artificial Intelligence)
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11 pages, 217 KB  
Article
Evaluation of Ganglion Cell–Inner Plexiform Layer Thickness in the Diagnosis of Preperimetric and Early Perimetric Glaucoma
by Ilona Anita Kaczmarek, Marek Edmund Prost and Radosław Różycki
J. Clin. Med. 2025, 14(19), 7117; https://doi.org/10.3390/jcm14197117 - 9 Oct 2025
Viewed by 759
Abstract
Background: Optical coherence tomography (OCT) is the main diagnostic technology used to detect damage to the retinal ganglion cells (RGCs) in glaucoma. However, it remains unclear which OCT parameter demonstrates the best diagnostic performance for eyes with early, especially preperimetric glaucoma (PPG). We [...] Read more.
Background: Optical coherence tomography (OCT) is the main diagnostic technology used to detect damage to the retinal ganglion cells (RGCs) in glaucoma. However, it remains unclear which OCT parameter demonstrates the best diagnostic performance for eyes with early, especially preperimetric glaucoma (PPG). We determined the diagnostic performance of ganglion cell–inner plexiform layer (GCIPL) parameters using spectral-domain OCT (SD-OCT) in primary open-angle preperimetric and early perimetric glaucoma and compared them with optic nerve head (ONH) and peripapillary retinal nerve fiber layer (pRNFL) parameters. Methods: We analyzed 101 eyes: 36 normal eyes, 33 with PPG, and 32 with early perimetric glaucoma. All patients underwent Topcon SD–OCT imaging using the Optic Disc and Macular Vertical protocols. The diagnostic abilities of the GCIPL, rim area, vertical cup-to-disc ratio (CDR), and pRNFL were assessed using the area under the receiver operating characteristic curve (AUC). Results: For PPG, the AUCs ranged from 0.60 to 0.63 (GCIPL), 0.82 to 0.86 (ONH), and 0.49 to 0.75 (pRNFL). For early perimetric glaucoma, the AUCs for GCIPL and pRNFL ranged from 0.81 to 0.88 and 0.57 to 0.91, respectively, whereas both ONH parameters demonstrated an AUC of 0.89. The GCIPL parameters were significantly lower than both ONH parameters in detecting preperimetric glaucoma (p < 0.05). For early perimetric glaucoma, comparisons between the AUCs of the best-performing mGCIPL parameters and those of the best-performing pRNFL and ONH parameters revealed no significant differences in their diagnostic abilities (p > 0.05). Conclusions: GCIPL parameters exhibited a diagnostic performance comparable to that of ONH and pRNFL parameters for early perimetric glaucoma. However, their ability to detect preperimetric glaucoma was significantly lower than the ONH parameters. Full article
(This article belongs to the Section Ophthalmology)
22 pages, 5732 KB  
Article
Explainable Transformer-Based Framework for Glaucoma Detection from Fundus Images Using Multi-Backbone Segmentation and vCDR-Based Classification
by Hind Alasmari, Ghada Amoudi and Hanan Alghamdi
Diagnostics 2025, 15(18), 2301; https://doi.org/10.3390/diagnostics15182301 - 10 Sep 2025
Viewed by 1420
Abstract
Glaucoma is an eye disease caused by increased intraocular pressure (IOP) that affects the optic nerve head (ONH), leading to vision problems and irreversible blindness. Background/Objectives: Glaucoma is the second leading cause of blindness worldwide, and the number of people affected is [...] Read more.
Glaucoma is an eye disease caused by increased intraocular pressure (IOP) that affects the optic nerve head (ONH), leading to vision problems and irreversible blindness. Background/Objectives: Glaucoma is the second leading cause of blindness worldwide, and the number of people affected is increasing each year, with the number expected to reach 111.8 million by 2040. This escalating trend is alarming due to the lack of ophthalmology specialists relative to the population. This study proposes an explainable end-to-end pipeline for automated glaucoma diagnosis from fundus images. It also evaluates the performance of Vision Transformers (ViTs) relative to traditional CNN-based models. Methods: The proposed system uses three datasets: REFUGE, ORIGA, and G1020. It begins with YOLOv11 for object detection of the optic disc. Then, the optic disc (OD) and optic cup (OC) are segmented using U-Net with ResNet50, VGG16, and MobileNetV2 backbones, as well as MaskFormer with a Swin-Base backbone. Glaucoma is classified based on the vertical cup-to-disc ratio (vCDR). Results: MaskFormer outperforms all models in segmentation in all aspects, including IoU OD, IoU OC, DSC OD, and DSC OC, with scores of 88.29%, 91.09%, 93.83%, and 93.71%. For classification, it achieved accuracy and F1-scores of 84.03% and 84.56%. Conclusions: By relying on the interpretable features of the vCDR, the proposed framework enhances transparency and aligns well with the principles of explainable AI, thus offering a trustworthy solution for glaucoma screening. Our findings show that Vision Transformers offer a promising approach for achieving high segmentation performance with explainable, biomarker-driven diagnosis. Full article
(This article belongs to the Section Machine Learning and Artificial Intelligence in Diagnostics)
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12 pages, 1605 KB  
Article
PM2.5 Exposure as a Risk Factor for Optic Nerve Health in Type 2 Diabetes Mellitus
by Tianyi Yuan, Minna Cheng, Yingyan Ma, Haidong Zou, Haidong Kan, Xia Meng, Yi Guo, Ziwei Peng, Yi Xu, Lina Lu, Saiguang Ling, Zhou Dong, Yuheng Wang, Qinping Yang, Wenli Xu, Yan Shi, Cong Liu and Senlin Lin
Toxics 2024, 12(11), 767; https://doi.org/10.3390/toxics12110767 - 22 Oct 2024
Cited by 3 | Viewed by 1743
Abstract
(1) Objective: This study investigated the relationship between long-term particulate matter (PM2.5) exposure and optic disc parameters—vertical cup-to-disc ratio (vCDR), vertical optic disc diameter (vDD), and vertical optic cup diameter (vCD)—in patients with type 2 diabetes mellitus (T2DM). (2) Methods: A [...] Read more.
(1) Objective: This study investigated the relationship between long-term particulate matter (PM2.5) exposure and optic disc parameters—vertical cup-to-disc ratio (vCDR), vertical optic disc diameter (vDD), and vertical optic cup diameter (vCD)—in patients with type 2 diabetes mellitus (T2DM). (2) Methods: A cross-sectional analysis was conducted using data from 65,750 T2DM patients in the 2017–2018 Shanghai Cohort Study of Diabetic Eye Disease (SCODE). Optic disc parameters were extracted from fundus images, and PM2.5 exposure was estimated using a random forest model incorporating satellite and meteorological data. Multivariate linear regression models were applied, adjusting for confounders including age, gender, body mass index, blood pressure, glucose, time of T2DM duration, smoking, drinking, and physical exercise. (3) Results: A 10 μg/m3 increase in PM2.5 exposure was associated with significant reductions in vCDR (−0.008), vDD (−42.547 μm), and vCD (−30.517 μm) (all p-values < 0.001). These associations persisted after sensitivity analyses and adjustments for other pollutants like O3 and NO2. (4) Conclusions: Long-term PM2.5 exposure is associated with detrimental changes in optic disc parameters in patients with T2DM, suggesting possible optic nerve atrophy. Considering the close relationship between the optic nerve and the central nervous system, these findings may also reflect broader neurodegenerative processes. Full article
(This article belongs to the Section Air Pollution and Health)
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14 pages, 1633 KB  
Article
Features Associated with Visible Lamina Cribrosa Pores in Individuals of African Ancestry with Glaucoma: Primary Open-Angle African Ancestry Glaucoma Genetics (POAAGG) Study
by Jalin A. Jordan, Ebenezer Daniel, Yineng Chen, Rebecca J. Salowe, Yan Zhu, Eydie Miller-Ellis, Victoria Addis, Prithvi S. Sankar, Di Zhu, Eli J. Smith, Roy Lee, Gui-Shuang Ying and Joan M. O’Brien
Vision 2024, 8(2), 24; https://doi.org/10.3390/vision8020024 - 18 Apr 2024
Cited by 2 | Viewed by 2497
Abstract
There are scarce data regarding the rate of the occurrence of primary open-angle glaucoma (POAG) and visible lamina cribrosa pores (LCPs) in the eyes of individuals with African ancestry; the potential impact of these features on disease burden remains unknown. We recruited subjects [...] Read more.
There are scarce data regarding the rate of the occurrence of primary open-angle glaucoma (POAG) and visible lamina cribrosa pores (LCPs) in the eyes of individuals with African ancestry; the potential impact of these features on disease burden remains unknown. We recruited subjects with POAG to the Primary Open-Angle African American Glaucoma Genetics (POAAGG) study. Through regression models, we evaluated the association between the presence of LCPs and various phenotypic features. In a multivariable analysis of 1187 glaucomatous eyes, LCPs were found to be more likely to be present in eyes with cup-to-disc ratios (CDR) of ≥0.9 (adjusted risk ratio (aRR) 1.11, 95%CI: 1.04–1.19, p = 0.005), eyes with cylindrical-shaped (aRR 1.22, 95%CI: 1.11–1.33) and bean pot (aRR 1.24, 95%CI: 1.13–1.36) cups versus conical cups (p < 0.0001), moderate cup depth (aRR 1.24, 95%CI: 1.06–1.46) and deep cups (aRR 1.27, 95%CI: 1.07–1.50) compared to shallow cups (p = 0.01), and the nasalization of central retinal vessels (aRR 1.33, 95%CI: 1.23–1.44), p < 0.0001). Eyes with LCPs were more likely to have a higher degree of African ancestry (q0), determined by means of SNP analysis (aRR 0.96, 95%CI: 0.93–0.99, p = 0.005 for per 0.1 increase in q0). Our large cohort of POAG cases of people with African ancestry showed that LCPs may be an important risk factor in identifying severe disease, potentially warranting closer monitoring by physicians. Full article
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33 pages, 3128 KB  
Review
Automated Glaucoma Screening and Diagnosis Based on Retinal Fundus Images Using Deep Learning Approaches: A Comprehensive Review
by Mohammad J. M. Zedan, Mohd Asyraf Zulkifley, Ahmad Asrul Ibrahim, Asraf Mohamed Moubark, Nor Azwan Mohamed Kamari and Siti Raihanah Abdani
Diagnostics 2023, 13(13), 2180; https://doi.org/10.3390/diagnostics13132180 - 26 Jun 2023
Cited by 73 | Viewed by 11464
Abstract
Glaucoma is a chronic eye disease that may lead to permanent vision loss if it is not diagnosed and treated at an early stage. The disease originates from an irregular behavior in the drainage flow of the eye that eventually leads to an [...] Read more.
Glaucoma is a chronic eye disease that may lead to permanent vision loss if it is not diagnosed and treated at an early stage. The disease originates from an irregular behavior in the drainage flow of the eye that eventually leads to an increase in intraocular pressure, which in the severe stage of the disease deteriorates the optic nerve head and leads to vision loss. Medical follow-ups to observe the retinal area are needed periodically by ophthalmologists, who require an extensive degree of skill and experience to interpret the results appropriately. To improve on this issue, algorithms based on deep learning techniques have been designed to screen and diagnose glaucoma based on retinal fundus image input and to analyze images of the optic nerve and retinal structures. Therefore, the objective of this paper is to provide a systematic analysis of 52 state-of-the-art relevant studies on the screening and diagnosis of glaucoma, which include a particular dataset used in the development of the algorithms, performance metrics, and modalities employed in each article. Furthermore, this review analyzes and evaluates the used methods and compares their strengths and weaknesses in an organized manner. It also explored a wide range of diagnostic procedures, such as image pre-processing, localization, classification, and segmentation. In conclusion, automated glaucoma diagnosis has shown considerable promise when deep learning algorithms are applied. Such algorithms could increase the accuracy and efficiency of glaucoma diagnosis in a better and faster manner. Full article
(This article belongs to the Section Machine Learning and Artificial Intelligence in Diagnostics)
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20 pages, 2936 KB  
Article
Analysis of the Asymmetry between Both Eyes in Early Diagnosis of Glaucoma Combining Features Extracted from Retinal Images and OCTs into Classification Models
by Francisco Rodríguez-Robles, Rafael Verdú-Monedero, Rafael Berenguer-Vidal, Juan Morales-Sánchez and Inmaculada Sellés-Navarro
Sensors 2023, 23(10), 4737; https://doi.org/10.3390/s23104737 - 14 May 2023
Cited by 4 | Viewed by 3808
Abstract
This study aims to analyze the asymmetry between both eyes of the same patient for the early diagnosis of glaucoma. Two imaging modalities, retinal fundus images and optical coherence tomographies (OCTs), have been considered in order to compare their different capabilities for glaucoma [...] Read more.
This study aims to analyze the asymmetry between both eyes of the same patient for the early diagnosis of glaucoma. Two imaging modalities, retinal fundus images and optical coherence tomographies (OCTs), have been considered in order to compare their different capabilities for glaucoma detection. From retinal fundus images, the difference between cup/disc ratio and the width of the optic rim has been extracted. Analogously, the thickness of the retinal nerve fiber layer has been measured in spectral-domain optical coherence tomographies. These measurements have been considered as asymmetry characteristics between eyes in the modeling of decision trees and support vector machines for the classification of healthy and glaucoma patients. The main contribution of this work is indeed the use of different classification models with both imaging modalities to jointly exploit the strengths of each of these modalities for the same diagnostic purpose based on the asymmetry characteristics between the eyes of the patient. The results show that the optimized classification models provide better performance with OCT asymmetry features between both eyes (sensitivity 80.9%, specificity 88.2%, precision 66.7%, accuracy 86.5%) than with those extracted from retinographies, although a linear relationship has been found between certain asymmetry features extracted from both imaging modalities. Therefore, the resulting performance of the models based on asymmetry features proves their ability to differentiate healthy from glaucoma patients using those metrics. Models trained from fundus characteristics are a useful option as a glaucoma screening method in the healthy population, although with lower performance than those trained from the thickness of the peripapillary retinal nerve fiber layer. In both imaging modalities, the asymmetry of morphological characteristics can be used as a glaucoma indicator, as detailed in this work. Full article
(This article belongs to the Topic Applications in Image Analysis and Pattern Recognition)
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14 pages, 3022 KB  
Communication
Identifying the Edges of the Optic Cup and the Optic Disc in Glaucoma Patients by Segmentation
by Srikanth Tadisetty, Ranjith Chodavarapu, Ruoming Jin, Robert J. Clements and Minzhong Yu
Sensors 2023, 23(10), 4668; https://doi.org/10.3390/s23104668 - 11 May 2023
Cited by 27 | Viewed by 5134
Abstract
With recent advancements in artificial intelligence, fundus diseases can be classified automatically for early diagnosis, and this is an interest of many researchers. The study aims to detect the edges of the optic cup and the optic disc of fundus images taken from [...] Read more.
With recent advancements in artificial intelligence, fundus diseases can be classified automatically for early diagnosis, and this is an interest of many researchers. The study aims to detect the edges of the optic cup and the optic disc of fundus images taken from glaucoma patients, which has further applications in the analysis of the cup-to-disc ratio (CDR). We apply a modified U-Net model architecture on various fundus datasets and use segmentation metrics to evaluate the model. We apply edge detection and dilation to post-process the segmentation and better visualize the optic cup and optic disc. Our model results are based on ORIGA, RIM-ONE v3, REFUGE, and Drishti-GS datasets. Our results show that our methodology obtains promising segmentation efficiency for CDR analysis. Full article
(This article belongs to the Special Issue Deep Learning Technology and Image Sensing)
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21 pages, 7087 KB  
Article
Retinal Nerve Fiber Layer Analysis Using Deep Learning to Improve Glaucoma Detection in Eye Disease Assessment
by Alifia Revan Prananda, Eka Legya Frannita, Augustine Herini Tita Hutami, Muhammad Rifqi Maarif, Norma Latif Fitriyani and Muhammad Syafrudin
Appl. Sci. 2023, 13(1), 37; https://doi.org/10.3390/app13010037 - 20 Dec 2022
Cited by 27 | Viewed by 5204
Abstract
Recently, the development of a rapid detection approach for glaucoma has been widely proposed to assist medical personnel in detecting glaucoma disease thanks to the outstanding performance of artificial intelligence. In several glaucoma detectors, cup-to-disc ratio (CDR) and disc damage likelihood scale (DDLS) [...] Read more.
Recently, the development of a rapid detection approach for glaucoma has been widely proposed to assist medical personnel in detecting glaucoma disease thanks to the outstanding performance of artificial intelligence. In several glaucoma detectors, cup-to-disc ratio (CDR) and disc damage likelihood scale (DDLS) play roles as the major objects that are used to analyze glaucoma. However, using CDR and DDLS is quite difficult since every person has different characteristics (shape, size, etc.) of the optic disc and optic cup. To overcome this issue, we proposed an alternative way to detect glaucoma disease by analyzing the damage to the retinal nerve fiber layer (RNFL). Our proposed method is divided into two processes: (1) the pre-treatment process and (2) the glaucoma classification process. We started the pre-treatment process by removing unnecessary parts, such as the optic disc and blood vessels. Both parts are considered for removal since they might be obstacles during the analysis process. For the classification stages, we used nine deep-learning architectures. We evaluated our proposed method in the ORIGA dataset and achieved the highest accuracy of 92.88% with an AUC of 89.34%. This result is improved by more than 15% from the previous research work. Finally, it is expected that our model could help improve eye disease diagnosis and assessment. Full article
(This article belongs to the Special Issue Artificial Intelligence (AI) in Healthcare)
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18 pages, 14492 KB  
Article
Unsupervised Domain Adaptation with Shape Constraint and Triple Attention for Joint Optic Disc and Cup Segmentation
by Fengming Zhang, Shuiwang Li and Jianzhi Deng
Sensors 2022, 22(22), 8748; https://doi.org/10.3390/s22228748 - 12 Nov 2022
Cited by 5 | Viewed by 2623
Abstract
Currently, glaucoma has become an important cause of blindness. At present, although glaucoma cannot be cured, early treatment can prevent it from getting worse. A reliable way to detect glaucoma is to segment the optic disc and cup and then measure the cup-to-disc [...] Read more.
Currently, glaucoma has become an important cause of blindness. At present, although glaucoma cannot be cured, early treatment can prevent it from getting worse. A reliable way to detect glaucoma is to segment the optic disc and cup and then measure the cup-to-disc ratio (CDR). Many deep neural network models have been developed to autonomously segment the optic disc and the optic cup to help in diagnosis. However, their performance degrades when subjected to domain shift. While many domain-adaptation methods have been exploited to address this problem, they are apt to produce malformed segmentation results. In this study, it is suggested that the segmentation network be adjusted using a constrained formulation that embeds prior knowledge about the shape of the segmentation areas that is domain-invariant. Based on IOSUDA (i.e., Input and Output Space Unsupervised Domain Adaptation), a novel unsupervised joint optic cup-to-disc segmentation framework with shape constraints is proposed, called SCUDA (short for Shape-Constrained Unsupervised Domain Adaptation). A shape constrained loss function is novelly proposed in this paper which utilizes domain-invariant prior knowledge concerning the segmentation region of the joint optic cup–optical disc of fundus images to constrain the segmentation result during network training. In addition, a convolutional triple attention module is designed to improve the segmentation network, which captures cross-dimensional interactions and provides a rich feature representation to improve the segmentation accuracy. Experiments on the RIM-ONE_r3 and Drishti-GS datasets demonstrate that the algorithm outperforms existing approaches for segmenting optic discs and cups. Full article
(This article belongs to the Special Issue Machine Learning and AI for Medical Data Analysis)
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7 pages, 217 KB  
Article
Asymmetry of Optic Nerve Head Parameters Measured by Confocal Scanning Laser Ophthalmoscopy in Myopic Anisometropic Eyes
by Weifen Gong, Xuehui Lu and Geng Wang
Appl. Sci. 2022, 12(8), 4047; https://doi.org/10.3390/app12084047 - 16 Apr 2022
Cited by 1 | Viewed by 2253
Abstract
Background: This study aimed to evaluate the asymmetry of optic nerve head parameters measured by confocal scanning laser ophthalmoscopy (CSLO) in myopic anisometropic eyes. Methods: A total of 36 eyes of 18 healthy myopic anisometropic subjects, defined as cases in which the difference [...] Read more.
Background: This study aimed to evaluate the asymmetry of optic nerve head parameters measured by confocal scanning laser ophthalmoscopy (CSLO) in myopic anisometropic eyes. Methods: A total of 36 eyes of 18 healthy myopic anisometropic subjects, defined as cases in which the difference in spherical equivalent (SE) between both eyes is ≥1.5D, were recruited. The optic nerve heads were measured using the Heidelberg retina tomograph II (Heidelberg Engineering, GmBH, Heidelberg, Germany). Differences in optic nerve head parameters between more myopic eyes and fellow eyes were evaluated using the paired-sample t-test. Pearson correlation and multiple linear regression analysis were used to evaluate factors associated with cup/disc ratio (CDR). Results: The cup/disc area ratio (mean difference 0.07 ± 0.11, P = 0.027), horizontal (mean difference 0.10 ± 0.17, P = 0.033), and vertical CDR (mean difference 0.13 ± 0.18, P = 0.008) were significantly smaller in more myopic eye. Larger disc area was independently and significantly associated with larger cup/disc area ratio (β = 0.561, P = 0.001) and vertical CDR (β = 0.499, P = 0.03). Conclusion: The CDR, horizontal, and vertical CDR were significantly smaller in the more myopic eyes in myopic anisometropic subjects. Further studies with larger samples are needed to confirm the asymmetry of the optic nerve head in myopic anisometropic eyes. Full article
22 pages, 4710 KB  
Article
Evaluations of Deep Learning Approaches for Glaucoma Screening Using Retinal Images from Mobile Device
by Alexandre Neto, José Camara and António Cunha
Sensors 2022, 22(4), 1449; https://doi.org/10.3390/s22041449 - 14 Feb 2022
Cited by 33 | Viewed by 4641
Abstract
Glaucoma is a silent disease that leads to vision loss or irreversible blindness. Current deep learning methods can help glaucoma screening by extending it to larger populations using retinal images. Low-cost lenses attached to mobile devices can increase the frequency of screening and [...] Read more.
Glaucoma is a silent disease that leads to vision loss or irreversible blindness. Current deep learning methods can help glaucoma screening by extending it to larger populations using retinal images. Low-cost lenses attached to mobile devices can increase the frequency of screening and alert patients earlier for a more thorough evaluation. This work explored and compared the performance of classification and segmentation methods for glaucoma screening with retinal images acquired by both retinography and mobile devices. The goal was to verify the results of these methods and see if similar results could be achieved using images captured by mobile devices. The used classification methods were the Xception, ResNet152 V2 and the Inception ResNet V2 models. The models’ activation maps were produced and analysed to support glaucoma classifier predictions. In clinical practice, glaucoma assessment is commonly based on the cup-to-disc ratio (CDR) criterion, a frequent indicator used by specialists. For this reason, additionally, the U-Net architecture was used with the Inception ResNet V2 and Inception V3 models as the backbone to segment and estimate CDR. For both tasks, the performance of the models reached close to that of state-of-the-art methods, and the classification method applied to a low-quality private dataset illustrates the advantage of using cheaper lenses. Full article
(This article belongs to the Special Issue Mobile Health Technologies for Ambient Assisted Living and Healthcare)
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12 pages, 2917 KB  
Article
A Precise Method to Evaluate 360 Degree Measures of Optic Cup and Disc Morphology in an African American Cohort and Its Genetic Applications
by Victoria Addis, Min Chen, Richard Zorger, Rebecca Salowe, Ebenezer Daniel, Roy Lee, Maxwell Pistilli, Jinpeng Gao, Maureen G. Maguire, Lilian Chan, Harini V. Gudiseva, Selam Zenebe-Gete, Sayaka Merriam, Eli J. Smith, Revell Martin, Candace Parker Ostroff, James C. Gee, Qi N. Cui, Eydie Miller-Ellis, Joan M. O’Brien and Prithvi S. Sankaradd Show full author list remove Hide full author list
Genes 2021, 12(12), 1961; https://doi.org/10.3390/genes12121961 - 9 Dec 2021
Cited by 1 | Viewed by 3132
Abstract
(1) Background: Vertical cup-to-disc ratio (CDR) is an important measure for evaluating damage to the optic nerve head (ONH) in glaucoma patients. However, this measure often does not fully capture the irregular cupping observed in glaucomatous nerves. We developed and evaluated a method [...] Read more.
(1) Background: Vertical cup-to-disc ratio (CDR) is an important measure for evaluating damage to the optic nerve head (ONH) in glaucoma patients. However, this measure often does not fully capture the irregular cupping observed in glaucomatous nerves. We developed and evaluated a method to measure cup-to-disc ratio (CDR) at all 360 degrees of the ONH. (2) Methods: Non-physician graders from the Scheie Reading Center outlined the cup and disc on digital stereo color disc images from African American patients enrolled in the Primary Open-Angle African American Glaucoma Genetics (POAAGG) study. After converting the resultant coordinates into polar representation, the CDR at each 360-degree location of the ONH was obtained. We compared grader VCDR values with clinical VCDR values, using Spearman correlation analysis, and validated significant genetic associations with clinical VCDR, using grader VCDR values. (3) Results: Graders delineated outlines of the cup contour and disc boundaries twice in each of 1815 stereo disc images. For both cases and controls, the mean CDR was highest at the horizontal bisector, particularly in the temporal region, as compared to other degree locations. There was a good correlation between grader CDR at the vertical bisector and clinical VCDR (Spearman Correlation OD: r = 0.78 [95% CI: 0.76–0.79]). An SNP in the MPDZ gene, associated with clinical VCDR in a prior genome-wide association study, showed a significant association with grader VCDR (p = 0.01) and grader CDR area ratio (p = 0.02). (4) Conclusions: The CDR of both glaucomatous and non-glaucomatous eyes varies by degree location, with the highest measurements in the temporal region of the eye. This method can be useful for capturing innate eccentric ONH morphology, tracking disease progression, and identifying genetic associations. Full article
(This article belongs to the Special Issue Insights into Heritability of Glaucoma and Other Optic Neuropathies)
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10 pages, 251 KB  
Article
Association of the SNP rs112369934 near TRIM66 Gene with POAG Endophenotypes in African Americans
by Claire D. Kim, Harini V. Gudiseva, Brendan McGeehan, Ebenezer Daniel, Gui Shuang Ying, Venkata R. M. Chavali and Joan M. O’Brien
Genes 2021, 12(9), 1420; https://doi.org/10.3390/genes12091420 - 15 Sep 2021
Cited by 6 | Viewed by 2369
Abstract
We investigated the association of the single nucleotide polymorphism (SNP) rs112369934 near the TRIM66 gene with qualitative and quantitative phenotypes of primary open-angle glaucoma (POAG) in African Americans (AA). AA subjects over 35 years old were recruited for the Primary Open-Angle African American [...] Read more.
We investigated the association of the single nucleotide polymorphism (SNP) rs112369934 near the TRIM66 gene with qualitative and quantitative phenotypes of primary open-angle glaucoma (POAG) in African Americans (AA). AA subjects over 35 years old were recruited for the Primary Open-Angle African American Glaucoma Genetics (POAAGG) study in Philadelphia, PA. Glaucoma cases were evaluated for phenotypes associated with POAG pathogenesis, and the associations between rs112369934 and phenotypes were investigated by logistic regression analysis and in gender-stratified case cohorts: The SNP rs112369934 was found to have a suggestive association with retinal nerve fiber layer (RNFL) thickness and cup-to-disc ratio (CDR) in 1087 male AA POAG cases, individuals with the TC genotype having thinner RNFL (95% CI 0.85 to 6.61, p = 0.01) and larger CDR (95% CI −0.07 to −0.01, p = 0.02) than those with wildtype TT. No other significant associations were found. In conclusion SNP rs112369934 may play a role in POAG pathogenesis in male AA individuals. However, this SNP has been implicated in higher POAG risk in both male and female AA POAG cases. Full article
(This article belongs to the Special Issue Insights into Heritability of Glaucoma and Other Optic Neuropathies)
9 pages, 232 KB  
Article
LMX1B Locus Associated with Low-Risk Baseline Glaucomatous Features in the POAAGG Study
by Elana Meer, Vivian L. Qin, Harini V. Gudiseva, Brendan McGeehan, Rebecca Salowe, Maxwell Pistilli, Jie He, Ebenezer Daniel, Gui Shang Ying, Venkata R. M. Chavali and Joan M. O’Brien
Genes 2021, 12(8), 1252; https://doi.org/10.3390/genes12081252 - 16 Aug 2021
Cited by 6 | Viewed by 2712
Abstract
Primary open-angle glaucoma (POAG) is the leading cause of irreversible blindness worldwide and has been associated with multiple genetic risk factors. The LMX1B gene is a genetic susceptibility factor for POAG, and several single-nucleotide polymorphisms (SNPs) were shown to be associated with POAG [...] Read more.
Primary open-angle glaucoma (POAG) is the leading cause of irreversible blindness worldwide and has been associated with multiple genetic risk factors. The LMX1B gene is a genetic susceptibility factor for POAG, and several single-nucleotide polymorphisms (SNPs) were shown to be associated with POAG in our own prior Primary Open-Angle African American Glaucoma Genetics (POAAGG) study genome-wide association study (GWAS). This study evaluated the association of the LMX1B locus with baseline optic disc and clinical phenotypic characteristics of glaucoma patients from our African American cohort. Compared to the GG genotype in SNP rs187699205, the GC genotype in this SNP was found to be significantly associated with a smaller cup-to-disc ratio (CDR) and increased (better) visual field mean deviation (MD) in glaucoma cases. None of the glaucoma cases with the GC genotype had disc hemorrhages, disc notching, or beanpot disc appearance. In conclusion, glaucoma phenotypes differed significantly by LMX1B variant in African American patients with POAG, and a SNP variant was associated with certain disease features considered lower risk. Full article
(This article belongs to the Special Issue Insights into Heritability of Glaucoma and Other Optic Neuropathies)
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