Table 1.
Characteristics of the cases with radial pattern fundus autofluorescence
| Case | Age | Sex | Genotype | Symptom | Visual acuity R/L | Visual field R/L | ERG (ISCEV 2008) R/L |
|---|---|---|---|---|---|---|---|
| 1 | 38 | Female | RPGR exon15 c.1860_1861del (p.620_621del) | Visual field defect in the right eye and night blindness since the third decade | 1.2/1.2 | Wedge-shaped restriction/wedge-shaped and concentric restriction | 20%–30% amplitude in both eyes compared with normal |
| 2 | 40 | Female | RPGR exon8 c.922G > C (p.A308P) | Amblyopia in the left eye and visual field defect in the left eye since 30 years of age | 0.9/0.15 | Wedge-shaped restriction and ring scotoma/concentric restriction | 50%–60% amplitude/nonrecordable |
| 3 | 11 | Female | RPGR exon8 c.922G > C (p.A308P) | Amblyopia in the left eye and photophobia since childhood | 1.2/0.04 | Peripheral island scotoma/ring scotoma | 60%–80% amplitude/30%–60% amplitude |
| 4 | 22 | Female | Undetermined (X-linked) | Recent night blindness | 1.2/1.2 | Peripheral island scotoma/wedge-shaped restriction | 50% amplitude in both eyes |
| 5 | 42 | Female | RPGR exon8 c.894_895del (p.298_299del) | None | NA | NA | NA |
| 6 | 43 | Female | Not tested (X-linked) | Night blindness since childhood | 0.7/0.6 | Concentric restriction/concentric restriction measured with Humphrey Field Analyzer | NA |
| 7 | 11 | Female | Not tested (X-linked) | Amblyopia in the left eye | 1.0/0.5 | NA | NA |
| Extra | 66 | Female | RPGR exon10 c.1087_1088insGTAG (p.V363fs) | None | NA | NA | NA |
Abbreviations: ERG, electroretinogram; ISCEV, International Society for Clinical Electrophysiology of Vision; NA, not applicable; R/L, right/left.