Table 1.
Clinical Characteristics of Patients
| Patient | Age (y) | Genotype | Eye | BCVA | ETDRS Score | Foveal Threshold (dB) | Kinetic Perimetry | SD-OCT Foveal ONL Thickness (μm) | SD-OCT Foveal IS Thickness (μm) | SD-OCT Foveal OS Thickness (μm) |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 14 | c.626G>C, p.Arg209Pro | OD | 20/50 | 65 | 34 | Constriction to 40° nasally OD, 50° OS to V4e target | Schisis | Schisis | 29.8 ± 0.8 (P = 4 × 10−7) |
| OS | 20/32–2 | 73 | 36 | 65.2 ± 0.8 (P = 4.7 × 10−13) | 26.0 ± 1.2 (P = 4 × 10−5) | 38.2 ± 0.8 (P = 0.02) | ||||
| 2 | 29 | c.579dupC; p. Ile194Hisfs | OD | 20/50–1 | 64 | 34 | Full to V4e and I4e OD, constricted to 40° nasally to V4e target | Schisis | 24.6 ± 1.1 (P = 2 × 10−6) | 21.2 ± 0.8 (P = 5 × 10−12) |
| OS | 20/63 | 60 | 34 | OS | Schisis | 23.0 ± 0.7 (P = 4 × 10−8) | 21.2 ± 0.4 (P = 5 × 10−12) |
Foveal thresholds were measured using the Humphrey visual field 10–2 SITA standard protocol. SD-OCT thickness values represent the average of five measures within 1° of the fovea. Mean normal foveal ONL thickness = 125.5 ± 13.1 μm. Mean normal foveal IS thickness = 32.6 ± 3.2 μm. Mean normal foveal OS thickness = 43.7 ± 5.3 μm. BCVA, best-corrected visual acuity; ETDRS, Early Treatment Diabetic Retinopathy Study visual acuity score, expressed as number of letters correctly identified.