Table 3 of
Gu, Mol Vis 2016; 22:646-657. Table 3 of
Gu, Mol Vis 2016; 22:646-657.
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] |