Table 2 of Tang, Mol Vis 2016; 22:917-932.

Table 2. Mutations in FZD4 and associated clinical findings.

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

LP: Light perception; HM: Hand movement; FC: Finger count; OD: Right eye; OS: Left eye; NA: Not available; BCVA: Best corrected visual acuity. TRD: Tractional retinal detachment; NV: Neovascularization; AZ: Avascular zone; IPV: Increasing of peripheral vessels; MD: Macular dragging; VE: Vessels exudates; FRF: Falciform retinal fold; SV: Straightening of vessels; SC: Secondary cataract

Tang, Mol Vis 2016; 22:917-932. http://www.molvis.org/molvis/v22/917

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