Table 1.
Clinical and genetic characteristics of the family members
| Patient | Gender | Age | Clinical symptoms | BCVAa (logMAR) |
qAF8 |
Genetics | ||
|---|---|---|---|---|---|---|---|---|
| OD | OS | OD | OS | |||||
| I-1 | M | 43 | No symptoms | 0.0 | 0.0 | 183 | 155 | RLBP1+/− c.25C>T:p.Arg9Cys |
| I-2 | F | 42 | No symptoms | 0.0 | 0.0 | 114 | 118 | RLBP1+/− c.286_297:p.Phe96_99del |
| II-1 | F | 15 | Photophobia, poor night vision | 0.06 | 0.06 | – | – | RLBP1−/− c.25C>T:p.Arg9Cys and c.286_297:p.Phe96_99del |
| II-2 | F | 13 | Photophobia, poor night vision | 0.06 | 0.24 | – | – | RLBP1−/− c.25C>T:p.Arg9Cys and c.286_297:p.Phe96_99del |
| II-3 | M | 7 | No symptoms | 0.02 | 0.02 | N/A | N/A | NAb |
a BCVA, best corrected visual acuity; logMAR, logarithm of the minimum angle of resolution; OD, right eye; OS, left eye; qAF8, average quantitative autofluorescence of the 8 segments of the ring at an eccentricity of approximately 7° to 9° from the fovea.
b NA, not applicable.