Table 1 of Luo, Mol Vis 2021; 27:632-642.


Table 1. The demographic data and clinical manifestations.

Patient NO. / Gender Age at diagnosis CNV Ocular Manifestations Stage
1/M 6 year KIF11; exon2–4 Het Del OD: dragged-disc
OS: dragged-disc OD: 3A
OS: 3A
2/F 7 year KIF11; exon1–10 Het Del OD: retinal fold
OS: dragged-disc, RPE atrophy OD: 4B
OS: 3A
3/M 5 year KIF11; exon11 Het Del OD: posterior synechia of the iris, retinal fold
OS: shallow AC, pupil occlusion, total RD OD: 4B
OS: 5B
4/M 9 months TSPAN12; exon1–3 Het Del OD: retinal fold
OS: dragged-disc OD: 3A
OS: 4A
5/M 4 months LRP5; exon19–21 Het Del OD: corneal opacity, shallow AC, total RD 
OS: peripheral retinal nonperfusion, neovascularization OD: 5B
OS: 1B