Table 2.
Clinical data of XLRS1 families
| Vitreous abnormalities | |||||||||||||
| Pedigree | Subject | Mutation | Age (years) | Age at onset (years) | R/L | VA | Refractive spherical error (D) | Axial length (mm) | Ophthalmoscopy | Echography | Macular abnormalities | Peripheral retinoschisis | Retinal detachment |
| 70 | 70 | Trp112Cys | 9 | 4 | R | 20/60 | - | 22.3 | - | vitreoschisis | foveal schisis | yes | no |
| L | 20/60 | +1 | 21.6 | - | vitreoschisis | foveal schisis | yes | no | |||||
| - | 71 | Trp112Cys | 27 | 4 | R | 20/1000 | +5 | 21.3 | vitreoretinal traction | posterior vitreous detachment | foveal schisis | yes | yes |
| L | 20/100 | +5 | 20.7 | vitreoretinal traction | vitreoschisis | foveal schisis | yes | yes | |||||
| - | 72 | Trp112Cys | 26 | 5 | R | 20/100 | +1 | 24.2 | vitreoretinal traction | vitreoschisis | foveal schisis | yes | yes |
| L | 20/1000 | - | 23.4 | vitreoretinal traction | vitreoschisis | foveal schisis | yes | yes | |||||
| - | 73 | Trp112Cys | 28 | 3 | R | 20/40 | -0.75 | 23 | vitreoretinal traction | vitreoschisis | foveal schisis | yes | yes |
| L | 20/1000 | +0.5 | 23.4 | vitreoretinal traction | posterior vitreous detachment | foveal schisis | yes | yes | |||||
| 140 | 140 | Trp112Cys | 24 | 6 | R | 20/60 | +0.75 | 22.1 | vitreous veils, falciform fold, vitreoretinal traction | vitreoschisis | foveal schisis, bone spicule pigmentation | yes | no |
| L | 20/200 | +2 | 21.6 | vitreoretinal traction | vitreoschisis | retinal pigment atrophy, bone spicule pigmentation | no | no | |||||
| - | 141 | Trp112Cys | 20 | 6 | R | LP | - | 23.6 | falciform fold,vitreoretinal traction | vitreoschisis | retinal pigment atrophy, bone spicule pigmentation | no | no |
| L | 20/200 | -4.50 | 24 | falciform fold, vitreous veils, vitreoretinal traction | vitreoschisis | foveal schisis, bone spicule pigmentation | yes | no | |||||
| 80 | 80 | Gly178Asp | 32 | 6 | R | 20/100 | - | 23.2 | vitreous veils | vitreoschisis | foveal schisis | no | no |
| L | 20/100 | - | 23.3 | - | vitreoschisis | foveal schisis | no | no | |||||
| - | 81 | Gly178Asp | 28 | 6 | R | 20/100 | +0.50 | 22.6 | vitreous veils, vitreoretinal traction | vitreoschisis | foveal schisis | no | no |
| L | 20/100 | -1.50 | 23 | vitreous veils, vitreoretinal traction | vitreoschisis | foveal schisis | yes | no | |||||
| - | 82 | Gly178Asp | 20 | 6 | R | 20/100 | -2 | 22.1 | vitreous veils, vitreoretinal traction | vitreoschisis | foveal schisis | no | no |
| L | 20/100 | -0.50 | 22.7 | vitreous veils, vitreoretinal traction | vitreoschisis | foveal schisis | yes | no | |||||
| 93 | 93 | Glu72Lys | - | - | R | 20/90 | - | 23.9 | vitreous veils | vitreoschisis | foveal schisis | no | no |
| L | 20/40 | - | 22.5 | vitreous veils | vitreoschisis | foveal schisis | no | no | |||||
| - | 94 | Glu72Lys | 10 | 4 | R | 20/40 | -2 | 22.9 | vitreous veils | vitreoschisis | foveal schisis | no | no |
| L | 20/30 | -2 | 23.3 | vitreous veils | vitreoschisis | foveal schisis | no | no | |||||
| 180 | 180 | Glu72 Lys | 19 | 5 | R | 20/33 | -0.50 | 23.6 | vitreous veils | vitreoschisis | foveal schisis | no | no |
| L | 20/33 | 23.3 | vitreous veils | vitreoschisis | foveal schisis | no | no | ||||||
| 101 | 101 | Trp122Cys | 24 | 5 | R | 20/25 | - | 23.9 | vitreoretinal traction | vitreoschisis | foveal schisis | yes | yes |
| L | enucleation | - | - | - | - | - | - | - | |||||
| - | 102 | Trp122Cys | 27 | 6 | R | 20/20 | - | 24.2 | vitreoretinal traction | vitreoschisis | foveal schisis | yes | yes |
| L | 20/25 | - | 24 | vitreoretinal traction | vitreoschisis | foveal schisis | yes | yes | |||||
| 173 | 173 | Arg102Gln | 37 | 5 | R | 20/22 | - | 23.4 | vitreous veils | vitreoschisis | - | yes | no |
| L | 20/100 | -2 | 23.6 | vitrectomy | - | retinal pigment atrophy | yes | yes | |||||
| - | 174 | Arg102Gln | 37 | 5 | R | 20/50 | - | 22.7 | vitreous veils | vitreoschisis | macular scarring | no | no |
| L | 20/50 | - | 22.6 | vitreous veils | vitreoschisis | retinal pigment atrophy | no | no | |||||
| - | 175 | Arg102Gln | 31 | 5 | R | 20/25 | -2 | 23.6 | vitreous veils | vitreoschisis | retinal pigment atrophy | no | no |
| L | 20/1000 | - | 23.4 | vitreous veils | vitreoschisis | macular coloboma | no | no | |||||
| 201 | 201 | Ile81Asp | 12 | 6 | R | 20/100 | - | 23 | - | vitreoschisis | foveal schisis | no | no |
| L | 20/100 | - | 23.4 | - | vitreoschisis | foveal schisis | no | no | |||||
R= right eye; L= left eye; VA= visual acuity; LP= light perception.