Description:Inherited retinal degeneration (IRD) contains a group of retinopathies characterized by high heterogeneity in phenotypes and a widely variable genetic background. The diagnosis of IRD is challenging owing to its phenotypic and genotypic complexity. Metabolomics, the emerging tool investigating comprehensive small molecule constitution of biological samples, provides instantaneous phenotypic information as metabolites reflect both genetic and environmental factors. In this project, we aimed to discover potential biomarkers and establish a diagnosis model for classifying specific IRDs.