Machine Learning Method to Establish the Connection Between Age Related Macular Degeneration and Some Genetic Variations

Author(s):  
Antonieta Martínez-Velasco ◽  
Juan Carlos Zenteno ◽  
Lourdes Martínez-Villaseñor ◽  
Luis Miralles-Pechúan ◽  
Andric Pérez-Ortiz ◽  
...  
2020 ◽  
Vol 41 (6) ◽  
pp. 539-547
Author(s):  
Antonieta Martínez-Velasco ◽  
Andric C. Perez-Ortiz ◽  
Bani Antonio-Aguirre ◽  
Lourdes Martínez-Villaseñor ◽  
Esmeralda Lira-Romero ◽  
...  

2019 ◽  
Vol 9 (24) ◽  
pp. 5550
Author(s):  
Antonieta Martínez-Velasco ◽  
Lourdes Martínez-Villaseñor ◽  
Luis Miralles-Pechuán ◽  
Andric C. Perez-Ortiz ◽  
Juan C. Zenteno ◽  
...  

Age-related macular degeneration (AMD) is the leading cause of visual dysfunction and irreversible blindness in developed countries and a rising cause in underdeveloped countries. There is a current debate on whether or not cataracts are significant risk factors for AMD development. In particular, research regarding this association is so far inconclusive. For this reason, we aimed to employ here a machine-learning approach to analyze the relevance and importance of cataracts as a risk factor for AMD in a large cohort of Hispanics from Mexico. We conducted a nested case control study of 119 cataract cases and 137 healthy unmatched controls focusing on clinical data from electronic medical records. Additionally, we studied two single nucleotide polymorphisms in the CFH gene previously associated with the disease in various populations as positive control for our method. We next determined the most relevant variables and found the bivariate association between cataracts and AMD. Later, we used supervised machine-learning methods to replicate these findings without bias. To improve the interpretability, we detected the five most relevant features and displayed them using a bar graph and a rule-based tree. Our findings suggest that bilateral cataracts are not a significant risk factor for AMD development among Hispanics from Mexico.


2018 ◽  
Vol 2 (1) ◽  
pp. 24-30 ◽  
Author(s):  
Ursula Schmidt-Erfurth ◽  
Hrvoje Bogunovic ◽  
Amir Sadeghipour ◽  
Thomas Schlegl ◽  
Georg Langs ◽  
...  

2021 ◽  
Vol 11 (11) ◽  
pp. 1127
Author(s):  
Arun Govindaiah ◽  
Abdul Baten ◽  
R. Theodore Smith ◽  
Siva Balasubramanian ◽  
Alauddin Bhuiyan

Age-related macular degeneration (AMD) is a leading cause of blindness in the developed world. In this study, we compare the performance of retinal fundus images and genetic-information-based machine learning models for the prediction of late AMD. Using data from the Age-related Eye Disease Study, we built machine learning models with various combinations of genetic, socio-demographic/clinical, and retinal image data to predict late AMD using its severity and category in a single visit, in 2, 5, and 10 years. We compared their performance in sensitivity, specificity, accuracy, and unweighted kappa. The 2-year model based on retinal image and socio-demographic (S-D) parameters achieved a sensitivity of 91.34%, specificity of 84.49% while the same for genetic and S-D-parameters-based model was 79.79% and 66.84%. For the 5-year model, the retinal image and S-D-parameters-based model also outperformed the genetic and S-D parameters-based model. The two 10-year models achieved similar sensitivities of 74.24% and 75.79%, respectively, but the retinal image and S-D-parameters-based model was otherwise superior. The retinal-image-based models were not further improved by adding genetic data. Retinal imaging and S-D data can build an excellent machine learning predictor of developing late AMD over 2–5 years; the retinal imaging model appears to be the preferred prognostic tool for efficient patient management.


2021 ◽  
Author(s):  
Manik Kuchroo ◽  
Marcello DiStasio ◽  
Eda Calapkulu ◽  
Maryam Ige ◽  
Le Zhang ◽  
...  

1One Sentence SummaryA novel topological machine learning approach applied to single-nucleus RNA sequencing from human retinas with age-related macular degeneration identifies interacting disease phase-specific glial activation states shared with Alzheimer’s disease and multiple sclerosis.2AbstractNeurodegeneration occurs in a wide range of diseases, including age-related macular degeneration (AMD), Alzheimer’s disease (AD), and multiple sclerosis (MS), each with distinct inciting events. To determine whether glial transcriptional states are shared across phases of degeneration, we sequenced 50,498 nuclei from the retinas of seven AMD patients and six healthy controls, generating the first single-cell transcriptomic atlas of AMD. We identified groupings of cells implicated in disease pathogenesis by applying a novel topologically-inspired machine learning approach called ‘diffusion condensation.’ By calculating diffusion homology features and performing persistence analysis, diffusion condensation identified activated glial states enriched in the early phases of AMD, AD, and MS as well as an AMD-specific proangiogenic astrocyte state promoting pathogenic neovascularization in advanced AMD. Finally, by mapping the expression of disease-associated genes to glial states, we identified key signaling interactions creating hypotheses for therapeutic intervention. Our topological analysis identified an integrated disease-phase specific glial landscape that is shared across neurodegenerative conditions affecting the central nervous system.


F1000Research ◽  
2016 ◽  
Vol 5 ◽  
pp. 1573 ◽  
Author(s):  
Jeffrey De Fauw ◽  
Pearse Keane ◽  
Nenad Tomasev ◽  
Daniel Visentin ◽  
George van den Driessche ◽  
...  

There are almost two million people in the United Kingdom living with sight loss, including around 360,000 people who are registered as blind or partially sighted. Sight threatening diseases, such as diabetic retinopathy and age related macular degeneration have contributed to the 40% increase in outpatient attendances in the last decade but are amenable to early detection and monitoring. With early and appropriate intervention, blindness may be prevented in many cases. Ophthalmic imaging provides a way to diagnose and objectively assess the progression of a number of pathologies including neovascular (“wet”) age-related macular degeneration (wet AMD) and diabetic retinopathy. Two methods of imaging are commonly used: digital photographs of the fundus (the ‘back’ of the eye) and Optical Coherence Tomography (OCT, a modality that uses light waves in a similar way to how ultrasound uses sound waves). Changes in population demographics and expectations and the changing pattern of chronic diseases creates a rising demand for such imaging. Meanwhile, interrogation of such images is time consuming, costly, and prone to human error. The application of novel analysis methods may provide a solution to these challenges. This research will focus on applying novel machine learning algorithms to automatic analysis of both digital fundus photographs and OCT in Moorfields Eye Hospital NHS Foundation Trust patients. Through analysis of the images used in ophthalmology, along with relevant clinical and demographic information, Google DeepMind Health will investigate the feasibility of automated grading of digital fundus photographs and OCT and provide novel quantitative measures for specific disease features and for monitoring the therapeutic success.


F1000Research ◽  
2017 ◽  
Vol 5 ◽  
pp. 1573 ◽  
Author(s):  
Jeffrey De Fauw ◽  
Pearse Keane ◽  
Nenad Tomasev ◽  
Daniel Visentin ◽  
George van den Driessche ◽  
...  

There are almost two million people in the United Kingdom living with sight loss, including around 360,000 people who are registered as blind or partially sighted. Sight threatening diseases, such as diabetic retinopathy and age related macular degeneration have contributed to the 40% increase in outpatient attendances in the last decade but are amenable to early detection and monitoring. With early and appropriate intervention, blindness may be prevented in many cases. Ophthalmic imaging provides a way to diagnose and objectively assess the progression of a number of pathologies including neovascular (“wet”) age-related macular degeneration (wet AMD) and diabetic retinopathy. Two methods of imaging are commonly used: digital photographs of the fundus (the ‘back’ of the eye) and Optical Coherence Tomography (OCT, a modality that uses light waves in a similar way to how ultrasound uses sound waves). Changes in population demographics and expectations and the changing pattern of chronic diseases creates a rising demand for such imaging. Meanwhile, interrogation of such images is time consuming, costly, and prone to human error. The application of novel analysis methods may provide a solution to these challenges. This research will focus on applying novel machine learning algorithms to automatic analysis of both digital fundus photographs and OCT in Moorfields Eye Hospital NHS Foundation Trust patients. Through analysis of the images used in ophthalmology, along with relevant clinical and demographic information, DeepMind Health will investigate the feasibility of automated grading of digital fundus photographs and OCT and provide novel quantitative measures for specific disease features and for monitoring the therapeutic success.


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