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


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
exam onset OD OS OD OS OD OS
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]