Table 2 of
Al-Bdour, Mol Vis 2020; 26:445-458. Table 2 of
Al-Bdour, Mol Vis 2020; 26:445-458.
Table 2. Clinical examination results for participants with RLBP1 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| F4-V10 | RLBP1; p.Thr27ProfsTer26 | 30 | Y (2) | Paracentral vision better than peripheral vision | Para-central vision better than central vision | OD:CF 1m/ NI OS:CF closely/ NI | OD/ OS: Clear lens | OD: N OS: N | OD/ OS: Severe reduced scotopic and photopic responses | OD/ OS: Atrophic maculopathy | Photophobia |
| F4-V11 | RLBP1; p.Thr27ProfsTer26 | 28 | Y (2) | Paracentral vision better than peripheral vision | Para-central vision better than central vision | OD:0.05/ NI OS:0.05/ NI | OD/ OS: Clear lens | OD: N OS: N | OD/ OS: Severe reduced scotopic and photopic responses | OD/ OS: Atrophic maculopathy | Photophobia |
| F4-V12 | RLBP1; p.Thr27ProfsTer26 | 26 | Y (2) | Paracentral vision better than peripheral vision | Para-central vision better than central vision | OD:CF closely/ 0.1 OS:CF 2m/ NI | OD/ OS: Clear lens | OD: N OS: N | OD/ OS: Severe reduced scotopic and photopic responses | OD/ OS: Atrophic maculopathy | Photophobia |
| F4-V13 | RLBP1; p.Thr27ProfsTer26 | 34 | Y (2) | Paracentral vision better than peripheral vision | Para-central vision better than central vision | OD:CF 2.5m/ NI OS:CF 2.5m/ NI | OD/ OS: Congen-ital blue dots cataract | OD: N OS: N | OD/ OS: Moderate to severe reduced scotopic and photopic responses | OD/ OS: Atrophic maculopathy | Photophobia |
| F5-V5 | RLBP1; p.Pro133GlnfsTer126 | 60 | Y (2) | Y (35) | Y (50) | OD: CF closely/ NI OS: CF closely/ NI | OD/ OS: Nuclear sclerosis | OD: N OS: N | OD/ OS: Severe reduced scotopic and photopic responses | OD/ OS: Atrophic maculopathy | - |
| F5-V6 | RLBP1; p.Pro133GlnfsTer126 | 51 | Y (2) | Y (27) | Y (41) | OD: HM/ NI OS: HM/ NI | OD/OS: Mild PSCC | OD: N OS: N | OD/OS: Severe reduced scotopic and photopic responses | OD/ OS: Atrophic maculopathy |