Table 3. Phenotypic characterization of patients with missense mutation.
| Gene | Mutation | Family | Patient | Age | BCVA: | Lens opacities: | Visual field | ERG: | OCT (CFT, µm): |
|---|---|---|---|---|---|---|---|---|---|
| ID |
ID |
/Sex |
RE/LE |
RE/LE |
Cone/Rod |
RE/LE |
|||
| PRPF3 |
p.T494M |
RP-0537 |
R0537, II-1 |
49/F |
0.02/0.02 |
Clear |
Central<5° |
ND/ND |
184,CME/355,VMT |
| p.T494M |
RP-0537 |
R0553, III-2 |
27/F |
0.6/0.6 |
Clear |
Central 10° |
ND/ND |
― |
|
| ? |
? |
RP-0089 |
R0089, II-4 |
49/M |
0.2/0.2 |
NS |
Central 5°~10° |
ND/ND |
― |
| RHO |
p.R135W |
RP-0089 |
R0352, II-2 |
45/F |
HM/HM |
IOL |
Failure |
ND/ND |
178/140 |
| p.R135W |
RP-0089 |
R0119, III-2 |
22/M |
0.4/0.6 |
Clear |
Pph.constriction |
ND/ND |
― |
|
| p.D190N |
RP-0513 |
R0513 |
59/M |
0.2/0.4 |
PSC |
Central 5°~10° |
↓↓/ND |
256/347,ERM |
|
| PDE6B |
p.H557Y |
RP-0187 |
R0187, II-1 |
51/M |
0.02/0.04 |
IOL/NS |
Central 5°~10° |
ND/ND |
201/187 |
| p.H557Y |
RP-0143 |
R0143 |
26/F |
0.9/0.4 |
Clear |
Central 10° |
― |
263,ERM/244,CME |
|
| p.H557Y |
RP-0295 |
R0295 |
28/F |
0.7/0.4 |
Clear |
― |
― |
― |
|
| p.H557Y |
RP-0310 |
R0310 |
32/F |
0.5/0.5 |
ASC |
Pph.constriction |
― |
― |
|
| PRPH2 |
p.W316G |
RP-0030 |
R0030 |
33/M |
0.2/0.2 |
Clear |
Central<5° |
ND/ND |
― |
| RP1 | p.D984G | RP-0121 | R0121, II-1 | 29/M | 0.02/0.04 | IOL/PSC | ― | ND/ND | 181/109 |
BCVA, best corrected visual acuity (decimal); CFT, central foveal thickness (μm); CME, cystoid macular edema; ERM, epiretinal membrane; ERG, electroretinogram; HM, hand motion; IOL, intraocular lens; LE, left eye; ND, non-detectable; NS, nuclear sclerosis; OCT, optical coherence tomography; PSC, posterior subcapsular opacity; RE, right eye; VMT, vitreomacular traction.