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