TABLE 1.

Genetic causes of disease

Number of genes	% Solved genetic cases	Genes in order of descending incidence
Top 5 genes	48.2	ABCA4 (19.0%), USH2A (12.9%), RPGR (6.8%), PRPH2 (4.8%), RHO (4.7%)
Top 10 genes	59.9	+ EYS (2.6%), BEST1 (2.4%), PRPF31 (2.4%), CRB1 (2.3%), RS1 (2.0%)
Top 20 genes	72.1	+ CHM (1.7%), BBS1 (1.7%), RP1 (1.7%), PROM1 (1.1%), PDE6B (1.1%), CRX (1.1%), MYO7A (1.0%), NR2E3 (1.0%), CNGA3 (1.0%), RDH12 (0.8%)
Top 25 genes	76.0	+ RP2 (0.8%), CNGB3 (0.8%), ADGVR1 (0.8%), CERKL (0.8%), CEP290 (0.7%)
Top 54 genes	88.9	+ GUCY2D (0.7%), SAG, CNGB1, IMPG2, FAM161A (0.6%), MERTK, SNRNP200, CACNA1F (0.5%), RPE65, MAK, RP1L1, CNGA1, CDH23, IMPDH1, CLN3, PDE6A (0.4%), CDHR1, ALMS1, PRPF8, PCARE, GUCA1A, TULP1, NYX, IFT140, RPGRIP1, PRPF3, HK1, KIZ, CLRN1 (0.3%)

Note: The causative genes for the first 5,879 cases submitted to the My Retina Tracker Genetic Testing Program are provided in rank order for the cases that received a clear genetic result (pathogenic or likely pathogenic variants). The incidence of each gene () is provided for the top 25 genes with key steps in incidence indicated for the bottom 29 genes.