Fig. 1

Study flowchart and overview of P/LP variants in known EM genes. a Flowchart for the study design to characterize and identify deleterious variants in known and unreported EM genes. A total of 449 EM patients were recruited for visual acuity, autorefraction testing, and whole-exome sequencing. b Allele counts of P/LP variants detected in 33 of 75 known EM genes. c Diagnostic yield of known EM-causing genes in 449 patients. d The proportion of each mode of inheritance in the 102 patients carrying P/LP variants in known EM genes. e The proportional contribution of each gene among 102 cases. f The proportion of patients classified according to the clinical syndromic information of the affected genes. g GO pathway enrichment for 33 known EM genes. This network shows the terms with a P-value < 0.01 identified by Metascape, a minimum gene count of 3, and an enrichment factor >1.5. The nodes sizes are scaled with a P-value. The known EM genes are most significantly enriched in visual perception, eye development, and extracellular matrix organization. The number in parentheses shows the gene number and proportional contribution of each gene. h Schematic overview of proportional contribution of retinal cell-specific genes.