Table 1.
Genotype and phenotype of the 30 XLRS patients.
| Mutation type | Nucleotide and amino acid changes |
ACMG category and references |
Subjects (age/years) | BCVA (R/L) |
XLRS type (R/L) |
Schisis localization | Complications |
|---|---|---|---|---|---|---|---|
| Missense | c.577C>A p.Pro193Thr |
LP Novel |
F1(34) | 0.15/0.1 | FLPS/FLS | OU: INL/ONL/OPL/GCL | POAG (OU), VVs (R) |
| c.304C>T p.Arg102Trp |
P (Sauer et al. 1997) |
F2(25) | 0.1/0.02 | FLPS/FLPS | OU: INL/ONL |
OU: PACG, RPEAM, cataract L: RD. R: VVs |
|
| F8(9) | 0.25/0.4 | FLPS/FLPS | OU: INL/GCL | OU: VAAs and exudations | |||
|
c.625C>T .Arg209Cys |
P (1998) |
F6(48) | 0.2/0.3 | MA/MA | – | OU: RPEAM, VAAs and exudations | |
|
c.554C>T p.Thr185Met |
LP Novel |
F7(33) | 0.1/0.06 | FLS/FLS | OU: ONL/INL | Morning glory (OU) | |
|
c.638G>A p.Arg213Gln |
P (Hotta et al. 1998) |
F9(10) | 0.4/0.2 | FLS/FLS |
R: INL/GCL L: INL/ONL/GCL |
IMH (L), POAG (OU) | |
|
c.325G>A p.Gly109Arg |
P Novel |
F10(19) | 0.5/0.4 | FLS/FLS | OU: INL/OPL/GCL | N | |
|
c.336G>T p.Trp112Cys |
P (1998) |
F11(40) | 0.15/0.3 | MA/FLS |
R: – L: INL/ONL/GCL |
IMH (L) | |
|
c.214G>A p.Glu72Lys |
P (1998) |
F12(15) | 0.3/0.25 | FLPS/FLPS |
R: INL/OPL/GCL L: INL/ONL/OPL/GCL |
OU: VVs, RPEAM, VAAs and exudations | |
| F19(6) | 0.12/0.15 | FLPS/FLPS | OU: INL/ONL/GCL | VAAs (L) | |||
|
c.416 A>G p.Gln139Arg |
LP Novel |
F14(10) | 0.4/0.4 | FLPS/FLPS |
R: INL/ONL/OPL L: INL/ONL |
OU: VVs, VAAs and RPEAM | |
|
c.590G>A p.Arg197His |
P (1998) |
F15(5) | 0.25/0.4 | FLS/FLPS | OU: INL/ONL/OPL/GCL | L: VAAs and RPEAM | |
|
c.544C>T p.Arg182Cys |
P (1998) |
F16(4) | 0.3/0.5 | FLPS/FLPS | OU: INL/ONL/OPL | R: RPEAM | |
| F27(34) | 0.08/0.3 | MA/FLS |
R: – L: INL/ONL |
R: VAAs, RPEAM | |||
|
c.575C>T p.Pro192Leu |
P (Riveiro‐Alvarez et al. 2007) |
F17(22) | 0.12/0.12 | FLPS/FLPS | OU: INL/ONL/OPL/GCL | OU: VVs, VAAs, IRK and exudations | |
|
c.626G>A p.Arg209His |
P (Sauer et al. 1997) |
F20(17) | 0.4/0.4 | FLPS/FLPS | OU: INL/ONL/OPL/GCL | OU: VVs, VAAs, RPEAM and exudations | |
|
c.656G>A p.Cys219Tyr |
LP Novel |
F21(10) | 0.7/0.4 | FLPS/FLPS | OU: INL/ONL/OPL/GCL | OU: VVs and RPEAM. L: VAAs, IRK | |
|
c.421C>T p.Arg141Cys |
P (1998) |
F22(8) | 0.15/0.2 | FLS/FLS | OU: INL/ONL/OPL/GCL | N | |
|
c.626G>T p.Arg209Leu |
P (Skorczyk & Krawczynski 2012) |
F24(5) | 0.3/0.4 | FLPS/FLPS | OU: INL/ONL/OPL/GCL | OU: VVs, VAAs. L: RPEAM and exudations. R: VH | |
|
c.312C>G p.Asn104Lys |
P (Huopaniemi et al. 1999) |
F28(12) | 0.7/0.5 | FLS/FLPS |
R: INL/ONL/OPL/GCL L: INL/ONL/GCL |
L: RPEAM, VVs | |
| Splicing | c.78+5G>T |
P (Chen et al. 2014) |
F29(5) | 0.4/0.4 | FLPS/FLPS | OU: INL | OU: VVs, VAAs, RPEAM and exudations |
| c.52+2T>A |
P Novel |
F18(4) | 0.1/0.25 | FLS/FLS | OU: INL/ONL | N | |
| Frameshift |
c.97delT p.Trp33GlyfsX93 |
P (Bowles et al. 2011) |
F30(5) | 0.25/0.3 | FLS/FLS | OU: INL/ONL | N |
| F26(7) | 0.2/0.3 | FLPS/FLPS | OU: INL/GCL | OU: VVs, VAAs, RPEAM. L: RPEAM | |||
|
c.573delG p.Ile194Serfs*43 |
P (Hewitt et al. 2005) |
F3(24) | 0.3/0.3 | FS/FS | OU: INL/ONL/OPL/GCL | N | |
| F4(7) | 0.5/0.5 | FPS/FPS | OU: INL/ONL/OPL | strabismus (OU) | |||
|
c.14 delT p.Ile5LysfsX121 |
LP Novel |
F5(27) | 0.05/0.25 | FLPS/FLS | OU: INL/ONL/OPL/GCL | R: VAAs, IRK and RPEAM | |
|
c.577_579del p.Ter193del |
LP Novel |
F25(9) | 0.05/0.15 | FLPS/FLPS | OU: INL/ONL | OU: VVs, VAAs and IRK. L: Retinal white flecks. R; VAAs, cataract and RPEAM and exudations | |
| Gross deletion | EX1‐3DEL |
P (Chu et al. 2013) |
F13(9) | 0.8/0.05 | FLPS/FLPS |
R: INL/ONL/OPL/GCL L: INL/ONL/OPL |
L: VH, RD, cataract OU: VVs, VAAs |
| EX4‐6DEL |
P (Bowles et al. 2011) |
F23(9) | 0.3/0.03 | FLS/FLPS |
R: INL/ONL/OPL/GCL L: INL/ONL |
L: VVs and RPEAM |
– = no schisis, BCVA = best‐corrected visual acuity, FLPS = foveo‐lamellar schisis, plus peripheral schisis, FLS = foveo‐lamellar schisis, FS = foveal schisis, GCL = ganglion cell layer, IMH = inner macular hole, INL = inner nuclear layer, IPL = inner plexiform layer, IRK = inner retinal break, L = left, LP = likely pathogenic, MA = macular atrophy, N = normal, ONL = outer nuclear layer, OPL = outer plexiform layer, OU = binocular, P = pathogenic, PACG = primary angle closure glaucoma, POAG = primary open closure glaucoma, R = right, RD = retinal detachment, RPEAM = retinal pigment epithelial alteration or mottling, VAAs = vascular abnormalities, VH = vitreous haemorrhage, VVs = vitreous veils, XLRS = X‐linked juvenile retinoschisis.