Table 3. Genetic and clinical features of all reported Chinese RP patients.
|
Mutation |
Patient ID | Disease | Age (year)/ Sex | Onset Age (year) |
Clinical presentation |
Reference | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Type | Nucleotide | Amino Acid |
BCVA |
Fundus |
ERG | VF | |||||||
| O.D. | O.S. | Pigments | Optic disc | ||||||||||
| 1* |
- |
p.E1836* (Hom) |
II:1 |
RP |
NA/F |
20 |
20/400 |
HM |
- |
- |
Diminished |
- |
[28] |
| 1* |
- |
p.E1836* (Hom) |
II:2 |
RP |
40/M |
15 |
20/400 |
20/400 |
Diffuse |
Mild pallor |
Diminished |
- |
[28] |
| 1* |
- |
p.E1836* (Hom) |
II:5 |
RP |
NA/F |
20 |
20/400 |
HM |
- |
- |
Diminished |
- |
[28] |
| 1* |
c.[8012T>A];[704G>A] |
p.[L2671*];[W235*] |
F35–1 |
IRDs |
43/M |
13 |
20/100 |
20/100 |
- |
- |
- |
- |
[29] |
| 2# |
c.[490C>T];[6416G>A] |
p.[R614*];[C2139Y] |
ARRP05-II:3 |
RP |
40/M |
22 |
FC |
FC |
Diffuse |
Waxy |
Diminished |
- |
[24] |
| 2# |
c.[490C>T];[6416G>A] |
p.[R614*];[C2139Y] |
ARRP05-II:5 |
RP |
37/M |
20 |
HM |
HM |
- |
- |
- |
- |
[24] |
| 2# |
c.[490C>T];[6416G>A] |
p.[R614*];[C2139Y] |
ARRP05-II:7 |
RP |
32/M |
25 |
20/200 |
20/200 |
Diffuse |
Waxy |
Diminished |
- |
[24] |
| 2# |
c.[7919G>A];[8861T>C] |
p.[W2640*];[F2954S] |
ARRP06-II:2 |
RP |
54/M |
18 |
LP |
LP |
Diffuse |
Waxy |
Diminished |
- |
[24] |
| 2# |
c.[7919G>A];[8861T>C] |
p.[W2640*];[F2954S] |
ARRP06-II:4 |
RP |
52/M |
35 |
LP |
LP |
Diffuse |
Waxy |
Diminished |
- |
[24] |
| 2# |
c.[7919G>A];[8861T>C] |
p.[W2640*];[F2954S] |
ARRP06-II:8 |
RP |
49/F |
32 |
20/25 |
20/25 |
Diffuse |
Waxy |
Reduced |
Constricted |
[24] |
| 2# |
c.[6557G>A];
[9186_9187delCA] |
p.[G2186E];[NA] |
W127–1 |
IRDs |
48/F |
20 |
20/100 |
20/500 |
- |
- |
- |
- |
[29] |
| 2# |
c.[6416G>A];[8150delA] |
p.[C2139Y];[NA] |
W286–1 |
IRDs |
43/M |
20 |
FC |
20/400 |
- |
- |
- |
- |
[29] |
| 2# |
c.[2510G>T];[8107G>T] |
p.[C837F];[E2703*] |
F11–1 |
IRDs |
48/M |
41 |
20/50 |
20/50 |
- |
- |
- |
- |
[29] |
| 2# |
c.[7492G>C];
[8244_8245insT] |
p.[A2498P];[NA] |
W82–1 |
IRDs |
43/F |
22 |
20/40 |
20/40 |
- |
- |
- |
- |
[29] |
| 2# |
c.[6416G>A];[8392delG] |
p.[C2139Y];[NA] |
W86–1 |
IRDs |
25/M |
15 |
20/32 |
20/32 |
- |
- |
- |
- |
[29] |
| 3$ |
c.[6416G>A];[6557G>A] |
p.[C2139Y];[G2186E] |
No.10-II:1 |
RP |
49/F |
42 |
20/30 |
20/30 |
Diffuse |
Mild pallor |
Diminished |
Constricted |
[27] |
| 3$ |
c.[6416G>A];[6557G>A] |
p.[C2139Y];[G2186E] |
No.10-II:3 |
RP |
45/M |
36 |
20/50 |
20/40 |
Diffuse |
Mild pallor |
Diminished |
Constricted |
[27] |
| 3$ |
c.[6416G>A];[6557G>A] |
p.[C2139Y];[G2186E] |
No.10-II:4 |
RP |
35/F |
20 |
20/30 |
20/30 |
Diffuse |
Mild pallor |
Diminished |
Constricted |
[27] |
| 3$ |
c.[9368A>C];[6416G>A] |
p.[N3123T];[C2139Y] |
W5–1 |
IRDs |
34/M |
14 |
20/40 |
20/40 |
- |
- |
- |
- |
[29] |
| 3$ |
c.7492G>C (Hom) |
p.A2498P (Hom) |
W159–1 |
IRDs |
34/M |
20 |
20/40 |
20/50 |
- |
- |
- |
- |
[29] |
| 3$ |
c.[7609G>A];[7949C>T] |
p.[A2537T];[S2650F] |
W171–1 |
IRDs |
37/F |
20 |
FC |
FC |
- |
- |
- |
- |
[29] |
| 3$ |
c.[3489T>A];[2644T>C] |
p.[N1163K];[F882L] |
W13–1 |
IRDs |
63/M |
41 |
20/125 |
20/100 |
- |
- |
- |
- |
[29]) |
| 3$ | c.6416G>A (Hom) | p.C2139Y (Hom) | W75–1 | IRDs | 31/M | 20 | 20/100 | 20/100 | - | - | - | - | [29] |
Abbreviations: * loss of function & loss of function alleles; # loss of function & missense alleles; $ missense & missense alleles; RP: retinitis pigmentosa; IRDs: inherited retinal degenerations; Hom: homozygous; BCVA: best corrected visual acuity; O.D.: right eye; O.S.: left eye; FC: finger count; HM: hand movement; LP: light perception; ERG: electroretinography; VF: visual field.