Table 1.
Clinical/genetic characteristics and OCT findings of the patients.
| Family-Pt # (Figure #) | Age at exam/sex | Follow-up period (years) | Family history (trait) | RS1 gene | Full-field flash ERG | BCVA (decimal) | Refractive errors (diopters) | Ophthalmoscopy | OCT | Others | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Macular retinoschisis | Peripheral retinoschisis | Macular retinoschisis | Peripheral retinoschisis (Grade; Table 2) | |||||||||||||||
| R | L | R | L | R | L | R | L | R | L | R | L | |||||||
| 1-1 (Figure 1) | 23/M | 21 | Yes (XR) | NA | Negative | 0.5 | 0.3 | +2.0 | −1.5 | Yes | Yes | Yes (inferior) | Yes (inferior) | INL | INL | GCL, INL Grade 1 (superior) Grade 3 (inferior) | Image unclear | Past history of retinal detachment (L) |
| 2-1 (Figure 2) | 17/M | 12 | Yes (XR) | NA | Negative | 0.3 | 0.5 | +3.5 | +7.0 | Yes | Yes | Yes (superior) | Yes (superior) | INL | INL ONL OPL | GCL, INL Grade 1 (inferior) Grade 3 (superior) | GCL, INL Grade 4 (inferior) Grade 3 (superior) | Past history of retinal detachment (L) |
| 3-1 (Figure 3) | 16/M | 4 | Yes (XR) | NA | Negative | 0.8 | 0.7 | +2.5 | +2.5 | Yes | Yes | None | None | INL | INL | GCL, INL Grade 1 (superior) Grade 2 (inferior) | GCL, INL Grade 1 (superior) Grade 2 (inferior) | Occult RS in the inferior retina (R&L) |
| 2-2 | 33/M | 7 | Yes (XR) | NA | Negative | 0.5 | 0.07 | +2.5 | +2.0 | Yes | Yes | None | Yes (superior) | INL ONL (GCL) | INL ONL | None (Grade 1) | GCL Grade 1 (inferior) Grade 3 (superior) | Cousin of Pt 2-1 |
| 4-1 | 30/M | 23 | Yes (XR) | c.T267A p.Tyr89X | Negative | 0.2 | 0.3 | +2.0 | +2.0 | Yes | Yes | Yes (inferior) | Yes (inferior) | INL | INL | GCL, INL Grade 1 (superior) Grade 3 (inferior) | GCL, INL Grade 1 (superior) Grade 3 (inferior) | Siblings |
| 4-2 (Figure 4A) | 28/M | 23 | Yes (XR) | c.T267A p.Tyr89X | Negative | 0.3 | 0.2 | −0.5 | −0.5 | Yes | Yes | None | None | INL (GCL) (OS) | INL (GCL) | None Grade 1 | None Grade 1 | |
| 5-1 | 49/M | 5 | No | c.C598CT p.Arg200Cys | Negative | 0.2 | 0.2 | +2.0 | +0.5 | None (flecks) | None (flecks) | Yes (inferior) | None | None | None | GCL, INL Grade 1 (superior) Grade 3 (inferior) | None Grade 1 | |
| 6-1 (Figure 4B) | 47/M | 4 | No | NA | Negative | 0.4 | 0.3 | −3.0 | −3.0 | None | None | None | None | INL | INL (OS) (GCL) | None Grade 1 | None Grade 1 | |
| 7-1 | 64/M | 7 | Yes (XR) | NA | Negative | 0.04 | 0.04 | +6.0 | +6.5 | None (punctates) | None (punctates) | None (white spiculations) | None (white spiculations) | None | None | None Grade 1 | None Grade 1 | |
| 8-1 | 51/M | 23 | No | NA | Negative | NLP | 0.5 | NA | −1.0 | NA | Yes | NA | Yes (inferior) | NA | INL | NA | GCL, INL Grade 1 (superior) Grade 3 (inferior) | Phthisis bulbi (R) |
OCT, optical coherence tomography; Pt, patient; Fig, figure; exam, examination; XR, X-linked recessive, ERG, electroretinogram; BCVA, best corrected visual acuity; R, right eye; L, left eye; M, male; NA, not available; Negative, negative flash ERG with reduced b-wave; INL, inner nuclear layer; GCL, ganglion cell layer; ONL, outer nuclear layer; OPL, outer plexiform layer; OS, outer segment of the photoreceptor; NLP, no light perception. Parentheses in OCT findings indicate slight abnormalities in the layer.