Table 2 of Tang, Mol Vis 2016; 22:917-932.
Family No. | Patient No./Sex/Age | Sequence Change | BCVA (OD; OS) | Highest stage | Clinical findings (OD) | Clinical findings (OS) |
---|---|---|---|---|---|---|
3 | I:1/M/52Y | T326fsX356 | 0.4; 0.9 | 2 | AZ, NV, SV | AZ, NV, SV |
II:1/M/29Y | T326fsX356 | 0.05; 1.2 | 2 | AZ, NV, IPV, SV | AZ, NV, IPV, SV | |
III:1/M/4Y | T326fsX356 | NA | 4 | FRF | FRF | |
III:2/F/6Y | T326fsX356 | 0.63; 0. 32 | 1 | AZ, IPV, SV | AZ, IPV, SV | |
7 | I:2/F/42Y | T326fsX356 | NA | 1 | AZ, SV, IPV, VE | AZ, SV, IPV, VE |
II:1/F/14Y | T326fsX356 | 0.3; FC | 5 | MD, AZ, NV, VE | TRD | |
II:2/M/9Y | T326fsX356 | 1.0; 1.0 | 2 | AZ, NV, VE, IPV, SV | AZ, NV, VE, IPV, SV | |
4 | II:1/M/41Y | S345_A351del | 1.0; 1.0 | 1 | AZ, IPV, SV | AZ, IPV, SV |
II:3/M/45Y | S345_A351del | 0.9; 1.0 | 1 | AZ, IPV, SV | AZ, IPV, SV | |
II:4/F/44Y | S345_A351del | 1.0; 1.0 | NA | Normal | Normal | |
III:1/M/11Y | S345_A351del | LP; 0.3 | 5 | TRD | MD, AZ, IPV, SV | |
12 | I:2/F/30Y | C53S | 1.0; 1.0 | 1 | AZ, IPV, SV | AZ, IPV, SV |
II:1/M/8Y | C53S | 1.2; 0.6 | 1 | AZ, IPV, SV | MD, AZ, IPV, SV | |
II:2/F/15Y | C53S | 1.5; 1.5 | 1 | AZ, IPV, SV | AZ, IPV, SV | |
25 | II:1/M/13Y | G492fsX512 | 1.0; HM | 4 | AZ, NV, IPV, SV, VE | FRF |
26 | I:1/M/37Y | C45R | 1.0; 1.0 | 1 | AZ, IPV, SV | AZ, IPV, SV |
II:1/M/8Y | C45R | 0.1; FC | 4 | FRF | FRF | |
II:2/M/12Y | C45R | 0.1; 1.0 | 2 | MD, AZ, IPV, SV | AZ, IPV, SV, NV, VE | |
27 | I:1/M/38Y | W319X | 1.0; 1.0 | 1 | AZ, IPV | AZ, IPV |
II:1/M/15Y | W319X | FC; 1.0 | 1 | MD, AZ, IPV | AZ, IPV | |
28 | II:1/M/12Y | T500Lfs | 0.04; 0.9 | 4 | FRF | AZ, IPV, NV, VE |
29 | I:1/M/40Y | C45Y | 1.0; 1.0 | 1 | AZ, IPV, SV | AZ, IPV, SV |
II:1/M/6Y | C45Y | FC; 0.2 | 4B | FRF | MD, AZ, NV, VE, IPV, SV | |
30 | I:2/F/35Y | C90R | 1.0; 1.0 | 1 | AZ, IPV, SV | AZ, IPV, SV |
II:1/F/3Y | C90R | NA | 4 | FRF | MD, AZ, IPV, SV | |
33 | I:1/M/30Y | G36D | NLP; 0.04 | 5 | TRD | FRF, SC |
II:1/M/8Y | G36D | 0.03; 0.2 | 4 | FRF | AZ, IPV | |
31 | I:2/F/30Y | D428fsX429 | 0.8; FC | 4 | AZ, IPV, NV, VE | FRF |
II:1/M/5Y | D428fsX429 | 0.6; 0.1 | 2 | AZ, IPV, SV | MD, AZ, IPV, SV, NV, VE | |
37 | I:2/F/24Y | D428fsX429 | 0.4; 0.6 | 1 | AZ, IPV, SV | AZ, IPV, SV |
II:1/F/2M | D428fsX429 | NA | 4 | FRF | FRF | |
38 | I:2/F/30Y | D428fsX429 | NA | 1 | AZ, IPV, SV | AZ, IPV, SV |
II:1/M/2Y | D428fsX429 | NA | 4 | FRF | FRF | |
39 | I:2/F/26Y | D428fsX429 | NA | 1 | AZ, IPV, SV | MD, AZ, IPV, SV |
II:1/M/4Y | D428fsX429 | NA | 4 | AZ, IPV, SV | FRF | |
41 | II:1/M/6M | D428fsX429 | NA | 4 | AZ, SV | FRF |
14 | I:1/M/40Y | No | 1.5; 1.5 | 1 | AZ, IPV, SV | AZ, IPV, SV |
I:2/F/38Y | D428fsX429 | 1.2; 1.5 | 1 | AZ, IPV, SV | AZ, IPV, SV | |
II:1/F/15Y | D428fsX429 | FC; 1.0 | 4 | FRF | AZ, IPV, SV, NV, VE, VH | |
II:2/M/9Y | D428fsX429 | HM; HM | 5 | TRD, SC | TRD | |
42 | II:1/F/26Y | A75T | 0.2; 1.0 | 2 | VH, AZ, IPV, SV, NV, VE | AZ, IPV, SV, NV |
43 | I:2/F/32Y | C45S | NA | 4 | FRF, SC | AZ, IPV, SV |
II:1/F/7M | C45S | NA | 4 | FRF | AZ, IPV, SV | |
Ii:2/F/8Y | C45S | 0.8; 0.8 | 1 | AZ, IPV, SV | AZ, IPV, SV | |
36 | II:1/M/10Y | M105V | O.4; 1.0 | 2 | MD, AZ, SV, IPV, NV | AZ, IPV, SV, NV, VE |
44 | II:1/M/10Y | M105V | FC; 1.0 | 1 | MD, AZ, SV | AZ, IPV, SV |
II:2/M/8Y | M105V | 0.1; 1.0 | 1 | MD, AZ, SV | MD, AZ, SV |