Table 1 of
Al-Bdour, Mol Vis 2020; 26:445-458. Table 1 of
Al-Bdour, Mol Vis 2020; 26:445-458.
Table 1. Clinical examination results for participants with RP1 variants.
| Index | Identified gene; HGVSaa | Age | Nyctalopia (age) | Peripheral vision loss (age) | Central vision loss (age) | VA /BCVA | Slit lamp Biomicroscopy | Keratoconus | ffERG | OCT evaluation | Further clinical evaluation data |
|---|---|---|---|---|---|---|---|---|---|---|---|
| F1-V5 | RP1; p.Arg376Ter | 33 | Y (6) | Y (20) | Y (25) | OD: LP / NI OS: NLP/ NI | OD: Mild PSCC OS: Surgical aphakia | OD: Y OS: Y | OD/ OS: Severe reduced scotopic and photopic responses | OD: Generalised thinning of the outer retinal layer OS: Post surgery | High Cholesterol high LDL |
| F1-V6 | RP1; p.Arg376Ter | 44 | Y (6) | Y (20) | Y (25) | OD: LP/ NI OS: NLP/ NI | OD/ OS: Clear lens | OD: N OS: N | OD/ OS: Moderate to severe reduced scotopic and photopic responses | OD/ OS: Severe foveal atrophy | High triglyceride high LDL low HDL |
| F1-V9 | RP1; p.Arg376Ter | 27 | Y (5) | Y (7) | Y (25) | OD:HM/ NI OS:HM/ NI | OD/ OS: Clear lens | OD: N OS: N | OD/ OS: Severe reduced scotopic and photopic responses | OD: Moderate foveal atrophy OS: Moderate foveal atrophy; superior retinoschisis | High LDL low HDL |
| F2-V5 | RP1; p.Gly203Arg | 25 | Y (10) | Y (17) | N | OD: 0.4/ 0.5 OS: 0.3/ 0.3 | OD/ OS: Clear lens | OD: N OS: N | OD/ OS: Severe reduced scotopic and photopic responses | OD: Without pathological remark OS: Mild to foveal atrophy | Vit A supplement |
| F2-V6 | RP1; p.Gly203Arg | 35 | Y (5) | Y (14) | Y (30) | OD: CF 10cm / NI OS: HM/ NI | OD/ OS: PSCC | OD: N OS: N | OD/ OS: Severe reduced scotopic and photopic responses | OD: Without pathological remark OS: Mild to foveal atrophy | - |
| F3-V4 | RP1; p.Gly203Arg | 26 | Y (5) | Y (15) | Y (22) | OD: HM / NI OS: HM/ NI | OD/ OS: PSCC operated cataract surgery | OD: Y OS: Y | OD/ OS: Moderate to severe reduced scotopic and photopic responses | OD/ OS: Without pathological remarks | - |