. 2019 Jun 6;137(9):1054–1058. doi: 10.1001/jamaophthalmol.2019.1493

Table. Clinical and Genetic Characteristics of the Only-Unilateral Familial Exudative Vitreoretinopathy in This Cohort.

Patient No./Gestational Age, wk/Birth Weight, g	Age at Presentation	Affected Eye	Family History	Initial Diagnosis	Visual Acuity	Clinical Presentation	Disease Stage	Gene	Mutation	Type	Minor Allele Frequency	In Silico Analysis Score
Patient No./Gestational Age, wk/Birth Weight, g	Age at Presentation	Affected Eye	Family History	Initial Diagnosis	Visual Acuity	Clinical Presentation	Disease Stage	Gene	Mutation	Type	Minor Allele Frequency	SIFT	Poly-Phen 2	Mutation-Taster	GERP++
1/40/3250	2 y	OD	Positive	FEVR	LP	Temporal retinal fold	4A	LRP5	c.1801G>A; p.G601R^a	Missense mutation	NA	D	Pd	Dc	C
2/39/3450	6 y	OS	Negative	PFVS	NLP	Total RD	5B	LRP5	c.3361A>G; p.N1121D^a	Missense mutation	0.003	T	B	Dc	C
3/38/3300	2 y	OS	Negative	FEVR	NLP	Total RD	5B	LRP5	c.G3977A;p.R1326H^a	Missense mutation	NA	T	B	P	C
4/37/3100	2 mo	OD	Negative	PFVS	NLP	Total RD	5B	LRP5	c.266A>G;p.Q89R	Missense mutation	0.003	T	B	Dc	C
5/40/3150	4 y	OS	Negative	FEVR	FC/BE	Temporal retinal fold	4B	LRP5	c.2872C>T;p.R958W^a	Missense mutation	NA	D	Pd	Dc	C
6/38/3000	2 y	OS	Positive	RD	NA	ERD; flat AC	5A	LRP5	c.1969A>G;p.R657G^a	Missense mutation	NA	D	B	Dc	NC
7/40/3600	1 y	OD	Negative	RD	NA	ERD	5B	LRP5	c.920C>A;p.S307Y^a	Missense mutation	NA	D	Pd	Dc	C
8/39/3200	7 y	OD	Positive	Toxocariasis	0.6	Nasal drag disc	3B	LRP5	c.1193G>A;p.R398H^a	Missense mutation	NA	D	Pd	Dc	C
9/40/3450	2 y	OD	Negative	Coats		Temporal retinal fold; exudate	3B	LRP5	c.290C>T;p.A97V^a	Missense mutation	0.0008	T	B	P	NC
10/39/3300	5 mo	OS	Positive	RD	NA	Total RD	5B	LRP5	c.893G>A;p.R298H^a	Missense mutation	0.0008	T	B	P	NC
11/39/3600	3 mo	OD	Negative	FEVR	LP	Temporal retinal fold	4B	LRP5	c.C290T;p.A97V^a	Missense mutation	0.0008	T	B	P	NC
12/39/3600	8 mo	OD	Positive	PFVS	NA	Total RD	5B	FZD4	c.217-234del;p.73-78del^a	Deletion mutation	NA	NA	NA	NA	NA
13/40/3400	1 y	OS	Positive	PFVS	LP	Total RD	5B	FZD4	c.747dupC;p.Y250fs^a	Frameshift mutation	NA	NA	NA	NA	NA
14/39/3800	7 mo	OS	Negative	FEVR	FC/BE	Temporal retinal fold; exudate	4B	FZD4	c.686T>C; p.L229P^a	Missense mutation	NA	NA	NA	NA	NA
15/38/3400	11 y	OD	Negative	Maculopathy	0.25	Peripheral vascular abnormalities and macular exudation	1B	FZD4	c.C205T;p.H69Y	Missense mutation	0.0002	D	B	Dc	C
16/39/3200	4 y	OS	Positive	PFVS	NLP	Total RD	5A	ZNF408	c.1083delG;p.K361fs^a	Frameshift mutation	NA	NA	NA	NA	NA
17/40/3450	2 y	OS	Positive	PFVS	HM	Temporal retinal fold	4B	ZNF408	c.2125G>A;p.E709K^a	Missense mutation	NA	D	B	Dc	C
18/38/3300	2 y	OS	Positive	RD	NLP	Total RD	5B	NDP	c.258G>T;p.K86N^a	Missense mutation	NA	D	Pd	Dc	C
19/40/3500	2 y	OS	Negative	PFVS	NLP	Total RD	5B	TSPAN12	c.715A>T; p.I239F^a	Missense mutation	NA	T	B	Dc	C
20/40/4300	1 y	OS	Negative	RD	NLP	Total RD	5B	TSPAN12	c.*44C>T;/	NA	0.0002	NA	NA	NA	NA

Abbreviations: AC, anterior chamber; B, benign; BE, before eye; C, conserved; D, damaging; Dc, disease-causing, ERD, exudative retinal detachment; FC, figure counting; FEVR, familial exudative vitreoretinopathy; GERP ++, genomic evolutionary rate profiling; HM, hand moving; LP, light perception; NA, none available; NC, nonconserved; NLP, no light perception; Pd; probably damaging; PFVS, persistent fetal vasculature syndrome; RD, retinal detachment; SIFT, sorting intolerant from tolerant; T, tolerated.

^{^a}

The mutation site is novel that has not been reported in patients with FEVR.