Fig. 4

Cell type composition and marker gene expression of ABCA4-mutant ROs. (a) Stacked bar plot showing the proportional distribution of different cell types across developmental time points (D40-D260). The plot reveals the dynamic changes in cellular composition, including early retinal progenitor cells (RPC), photoreceptor precursors (PR_pre), cones, Müller glia, neurogenic retinal progenitor cells (NRPC), amacrine cells (AC), retinal ganglion cells (RGC), rods, and retinal pigment epithelium (RPE). (b) UMAP feature plots showing the expression patterns of key retinal cell type markers. Expression intensity is indicated by color gradient (blue to red). RCVRN and THRB (photoreceptor markers), NRL (rod photoreceptor marker), ISL1 (ganglion cell marker), TFAP2A (amacrine cell marker), ONECUT3 (horizontal cell marker), GAP43 (ganglion cell marker), and RPE65 (RPE marker) demonstrate distinct distribution patterns. (c) Dot plot showing the expression levels of selected marker genes across major retinal cell types. Dot size represents the percentage of cells expressing the gene, while color intensity indicates the average expression level.