Fig. 2: Metabolomics profile and selected identified metabolites in metabolomics analysis in different IRD groups.

a The heatmap of 40 identified metabolites with the most significant differences among the seven IRD subgroups and control group were selected using ANOVA. The red color represents the upregulated metabolites, while the blue color represents the downregulated metabolites in each enrolled case. For (2b–h), statistical analysis was performed using analysis of variance (ANOVA) with Tukey’s honestly significant difference test (two-sided). Results are indicated by: Nonsignificant; (ns), p > 0.05; *p ≤ 0.05; **p ≤ 0.01; ***p ≤ 0.001; ****p ≤ 0.0001. The levels of D-xylonate (b), citronellyl acetate (c), and hexadecanedioic acid (d) were higher in the CD/CRD, STGD, and RP groups than those in the BCD and control groups. The levels of phosphatidylserine (14:1/16:0) (e), phosphatidylcholine (19:1) (f), phosphatidylcholine [16:0/9:0(CHO)] (g), and N-undecanoylglycine (h) were lower in the CD/CRD, STGD, and RP groups than those in the BCD and control groups. Source data are provided as a Source Data file. IRD, inherited retinal degeneration; BCD, Bietti’s crystalline dystrophy, CRD, cone-rod dystrophy, RP, retinitis pigmentosa, STGD, Stargardt disease, ANOVA, analysis of variance, PC, phosphatidylcholine, PS, phosphatidylserine.