Table 1.
P-ID | Genotype | OA (year) | Age (year) /sex | BCVA (logMAR) | Refractive error | Fundus appearance | VF | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OD | OS | OD | OS | OD MD | OD | AA | MD | PD | OS MD | AA | PD | OD | OS | ||||
II-2 | c.6088C>T | 5 | 48/M | FC | HM | −3.0DS/−3.0DC × 180° | −2.0DS/-1.0DC × 15° | SEV | Y | Y | SEV | Y | Y | Y | Y | T | T |
III-1 | c.6088C>T | 7 | 27/M | 0.3 | 0.3 | +0.5DS/−2.25DC × 165° | +0.75DS/-3.25DC × 5° | MOD | Y | Y | Y | Y | Y | Y | Y | T | T |
III-2 | No | 9 | 32/F | 0.4 | 0.3 | −2.5DS/−1.0DC × 120° | −1.5DS/-1.0DC × 60° | MOD | Y | Y | Y | Y | Y | Y | Y | T | T |
P-ID, patient ID; OA, onset age; No, no mutation F, female; M, male; BCVA, best corrected visual acuity; logMAR, logarithm of the minimum angle of resolution; HM, hand moving; OD, right eye; OS, left eye; MD, macular degeneration, OD, optic disk, PD, pigment deposits, MOD, moderate; AA, artery attenuation; NOR, normal; SEV, severe.