Table 2 of Yang, Mol Vis 2012; 18:2438-2446.

Table 2. Clinical information on the patients with FZD4 or LRP5 mutations.

Family number ID/Sex/Age Mutation (gene/DNA) Best vision (right; left) Main phenotypes
Right eye Left eye
QT692 II:2/F/20y FZD4/c.313A>G 0.3; 0.3 IBPV RD, AZ, PFP, NV
  I:2/M/52y FZD4/c.313A>G 1.0; 1.0 IBPV IBPV
  II:1/F/21y FZD4/c.313A>G 1.0; 1.0 IBPV IBPV
QT926 II:3/M/5y FZD4/c.313A>G N/A IBPV TDOD
  I:2/M/36y FZD4/c.313A>G FC; 1.0 IBPV, AZ, FPF IBPV, AZ
QT928 II:1/F/4y FZD4/c.631T>C N/A TDOD TDOD, PFP
HM484 II:1/F/4y FZD4/c.1282–1285delGACA 0.3; 0.1 STA TDOD, PFP
QT413 II:3/M/9y FZD4/c.1482G>A 0.02; 0.8 RFM, LD AZ, PFP, BPV
  I:2/M/39y FZD4/c.1482G>A 1.0; 1.0 AZ, BPV, NV AZ, BPV, NV
  II:2/F/14y FZD4/c.1482G>A 0.6; 0.8 RD,TDOD STA
QT916 IV:1/F/2y FZD4/c.1513C>T N/A TDOD FPF
  III:4/M/26 FZD4/c.1513C>T N/A IBPV TDOD, BPV, AZ, PE
QT960 II:1/M/2mo LRP5/c.891–892delTC NLP; NLP RFM, RD,MC, FAC RFM, RD,MC, FAC
QT191 II:1/M/5mo LRP5/c.[2484C>G]+[2626G>A] NLP; NLP RFM, SCP RFM, SCP
QT476 II:1/F/1y LRP5/c.3361A>G HM; HM TDOD RFM
QT796 I:2/M/24y LRP5/c.4025G>A LP; 0.2 RFM AZ
  II:1/M/5mo LRP5/c.4025G>A N/A NYS, MC, RFM NYS, MC, RFM, SCP
QT934 II:2/F/6mo LRP5/c.4087G>A HM; HM RFM RFM
  I:1/F/30y LRP5/c.4087G>A 0.8;0.8 IBPV IBPV