Molecular Vision: Chen, Mol Vis 2014; 20:132-139. Table 2

Table 2. Clinical features and results of the RS1 gene mutations screening in the study.

Patient ID	Gender	Age(year)		BCVA		Macular retinoschisis		Peripheral retinoschisis		Other complication	ERG	Identified mutations	Exon	Source
Patient ID	Gender	exam	onset	OD	OS	OD	OS	OD	OS	Other complication	ERG	Identified mutations	Exon	Source
113001	M	15	EC	0.1	0.1	YES	YES	YES	YES	NO	NA	c.370C>T p.Q124X	5	Novel
113010	M	6	4	0.4	0.5	YES	YES	NO	NO	NO	NA	c.330delT,p.C110fs+15X	5	Novel
113020	M	24	8	0.1	0.05	YES	NA	YES	NA	cataract (OU), exotropia and RD(OS)	NA	c.581T>A p.I194N	6	Novel
113030	M	8	8	0.25	0.3	YES	YES	NO	NO	NO	NA	c.98G>A p.W33X	3	Novel
113040	M	8	6	0.4	0.4	YES	YES	NO	NO	NO	reduced photopic and 30Hz responses	del exon 1	1	[8]
113050	M	6	EC	0.5	0.02	NO	NO	YES	YES	NO	NA	c.78+5G>T	2	Novel
113060	M	5	5	0.2	0.1	YES	YES	YES	YES	NO	NA	c.638G>A p.R213Q	6	[9]
113070	M	5	3	0.2	0.1	YES	YES	NO	NO	NO	NA	c.578C>T p.P193L	6	[8]
113080	M	34	EC	0.2	0.2	YES	YES	NO	NO	NO	NA	c.599G>A p.R200H	6	[8]
113090	M	5	5	0.4	HM	YES	NA	NO	NA	RD (OS)	NA	c.52+2_3 ins tgaaggt	1	Novel
113100	M	6	6	0.05	1.0	NA	NO	NA	YES	exotropia and VH(OD)	b-wave reduced	c.496T>C p.Y166H	5	Novel
113110	M	41	EC	0.3	0.15	MA	MA	NO	NO	NO	NA	c.451T>C p.Y151H	5	Novel
113120	M	9	8	0.1	0.2	YES	YES	NO	NO	NO	NA	c.499A>G p.K167E	5	Novel
113140	M	7	EC	0.3	0.2	YES	YES	NO	NO	NO	NA	c.208G>A p.G70S	4	[8]
113150	M	4	4	0.02	0.4	YES	YES	NO	NO	NO	NA	c.375_378delAGATp.I125fs+1X	5	[8]
113160	M	27	EC	0.06	0.06	YES*	YES*	NO	NO	nystagmus(OU)	b-wave reduced	c.489del G p. W163fsX	5	[13]