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

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
Family number	ID/Sex/Age	Mutation (gene/DNA)	Best vision (right; left)	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

Abbreviations: M: Male, F: Female, y: Years old, mo: Months, FC: Finger counting, HM: Hand move, LP: Light perception, NLP: No light perception, N/A: Not available, IBPV: Increased branching of peripheral vessels, RD: Retinal detachment, PFP: Peripheral fibrous proliferation, NV: Neovascularization, TDOD: Temporal dragging of optic disc, AZ: Avascular zone, FRF: Falciform retinal fold, STA: Straightening of temporal arcades, RFM: Retrolenticular ﬁbrotic mass, LD: Lens dislocation, BPV: Brushlike peripheral vessels, PE: Peripheral exudates, MC: Microcornea, FAC: Flat anterior chamber, SCP: Stretched ciliary process. NYS: Nystagmus.