AIMC Topic: Eye Diseases, Hereditary

Clear Filters Showing 1 to 4 of 4 articles

Predicting brain structural network using functional connectivity.

Medical image analysis Apr 22, 2022
Uncovering the non-trivial brain structure-function relationship is fundamentally important for revealing organizational principles of human brain. However, it is challenging to infer a reliable relationship between individual brain structure and fun...
Neuroimaging Connectome Magnetic Resonance Imaging Eye Diseases, Hereditary Genetic Diseases, X-Linked Humans Brain Neural Networks, Computer
View on PubMed DOI

NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.

Human genetics Aug 26, 2021
Syndromic retinal diseases (SRDs) are a group of complex inherited systemic disorders, with challenging molecular underpinnings and clinical management. Our main goal is to improve clinical and molecular SRDs diagnosis, by applying a structured pheno...
Eye Diseases, Hereditary Ciliopathies Gene Ontology Female Retrospective Studies Cohort Studies Genetic Testing Male Syndrome Phenotype Retinal Diseases Prospective Studies High-Throughput Nucleotide Sequencing Humans Genetic Association Studies Molecular Diagnostic Techniques Mutation
View on PubMed DOI

Accuracy of machine learning for differentiation between optic neuropathies and pseudopapilledema.

BMC ophthalmology Aug 9, 2019
BACKGROUND: This study is to evaluate the accuracy of machine learning for differentiation between optic neuropathies, pseudopapilledema (PPE) and normals.
Nerve Fibers Eye Diseases, Hereditary ROC Curve Optic Disk Tomography, Optical Coherence Optic Neuritis Diagnosis, Differential Machine Learning Humans Optic Nerve Diseases Reproducibility of Results Visual Acuity Retinal Ganglion Cells
View on PubMed DOI

Grading of Foveal Hypoplasia Using Deep Learning on Retinal Fundus Images.

Translational vision science & technology May 1, 2025
PURPOSE: This study aimed to develop and evaluate a deep learning model for grading foveal hypoplasia using retinal fundus images.
Humans Retrospective Studies ROC Curve Tomography, Optical Coherence Child Eye Diseases, Hereditary Nystagmus, Congenital Fovea Centralis Fundus Oculi Deep Learning Infant Child, Preschool Adolescent Female Adult Male
View on PubMed DOI
Popular Topics
Recent Journals