Whole exome sequencing revealed 14 variants in NDP, FZD4, LRP5, and TSPAN12 genes for 20 families with familial exudative vitreoretinopathy

Table 1 Clinical features of all probands with potential disease-causing variants

ID	Gender	Symptom	Age at (year)		BCVA		Fundus examination		FFA
ID	Gender	Symptom	Onset	Exam	OD	OS	OD	OS	OD	OS
1	M	VD	13	15	0.2	0.8	IPRV, WLRS, LS	IPRV, WLRS, LS	IPRV, WLRS, LS, NPA	IPRV, WLRS, LS, NPA, PRA, PRL
2	M	VD, S	4	10	0.5	0.12	IPRV, WLRS	IPRV, WLRS	IPRV, WLRS, NPA	IPRV, WLRS, NPA, PRA, PRL
3	F	VD, S	4	5	0.4	0.1	IPRV, WLRS	IPRV, WLRS	IPRV, WLRS, NPA, PRA, PRL	IPRV, WLRS, NPA, PRA, PRL
4	M	VD, S	3	9	0.6	1.0	IPRV, WLRS, LS	IPRV, WLRS, LS, ME	IPRV, WLRS, LS, NPA, PRL	IPRV, WLRS, LS, ME, NPA
5	F	VD	35	50	1.0	0.6	IPRV, WLRS	IPRV, WLRS	IPRV, WLRS, NPA	IPRV, WLRS, NPA
6	F	VD	20	30	0.1	0.8	IPRV, WLRS, PoRD	IPRV, WLRS	IPRV, WLRS, PoRD, PRL	IPRV, WLRS, PRL
13	M	VD	21	21	0.01	0.3	IPRV, WLRS, PoRD, LS	IPRV, WLRS	IPRV, WLRS, NPA, PoRD, LS	IPRV, WLRS, NPA, PRA, PRL
8	M	VD, S	10	10	0.6	0.2	IPRV, WLRS, LS	IPRV, WLRS, LS	IPRV, WLRS, LS, NPA	IPRV, WLRS, LS, NPA, PRL
9	M	VD	24	33	0.6	0.6	IPRV, WLRS, LS	IPRV, WLRS, LS	IPRV, WLRS, LS, NPA, PRL	IPRV, WLRS, LS, NPA, PRL
10	M	VD, S	15	15	0.6	0.6	IPRV, WLRS	IPRV, WLRS	IPRV, WLRS, NPA	IPRV, WLRS, NPA, PRA, PRL
11	M	VD	30	34	FC	0.5	IPRV, WLRS	IPRV, WLRS	IPRV, WLRS, NPA, PRL	IPRV, WLRS, NPA, PRL
12	M	VD	18	24	1.0	0.8	IPRV, WLRS	IPRV, WLRS, ME, FRF, PRE, IPRV	IPRV, WLRS, NPA, PRA	IPRV, WLRS, ME, FRF, PRE, IPRV, NPA
13	F	VD, S	4	5	0.6	0.07	IPRV, WLRS	IPRV, WLRS	IPRV, WLRS, NPA	IPRV, WLRS, NPA

M, Male; F, Female; BCVA, best-corrected visual acuity; OD, right eye; OS, left eye; FFA, fluorescein fundus angiography; VD, vision decline; S, strabismus; IPRV, increased peripheral retinal vessels; WLRS, willow-like retinal vessels; FRF, falciform retinal folds; ME, macular ectopia; PRE, peripheral retinal exudates; PoRD, postoperative retinal detachment; LS, laser speckles; PRA, peripheral retinal avascularization; PRL, peripheral retinal leakage; NPA, No perfusion areas

ISSN: 1755-8794