Table 2 of
Li, Mol Vis 2007;
13:804-812.
Table 2. Clinical data of X linked juvenile retinoschisis families
Summarized are the clinical data corresponding to different RS1 mutations in Chinese X linked juvenile retinoschisis pedigrees. RS indicates retinoschisis and PVR refers to proliferative vitreoretinopathy. VH represents vitreous hemorrhage; RD represents retinal detachment; NVG represents neovescular glaucoma; PVR represents proliferative vitreoretinopathy. Blank sections means no data available.
Pedigree Age at spherical Axial ---------------- Age onset error length Vitreous abnormalities Macular Peripheral Retinal Number Subject Mutation (years) (years) R/L VA (D) (mm) Ophthalmoscopy abnormalities RS detachment ------ ------- --------- ------- ------- --- ----------- --------- ------ ---------------------- --------------- ---------- ---------------- 90 90 L9CfsX20* 17 4 R enucleation NVG before enucleation L 20/200 +3.25 21.6 vitrectomy foveal schisis yes PVR+ VH 91 L9CfsX20* 62 5 R Hm +5 21.3 vitreoretinal traction retinal pigment yes severe PVR, falciform fold, macular atrophy, VH+ strabismus bone spicule pigmentation L FC +1 20.7 vitreoretinal traction retinal pigment yes severe PVR, atrophy, VH 92 L9CfsX20* 55 6 R 20/100 +1.5 -- vitreoretinal traction foveal schisis yes yes L 20/100 +0.75 -- vitreoretinal traction foveal schisis yes yes 93 L9CfsX20* 50 5 R 20/40 +0.5 23.4 vitreoretinal traction foveal schisis yes no L 20/100 +0.75 22.1 Vitreoretinal traction foveal schisis yes yes falciform fold, macular atrophy, pigmentation 330 330 52+2 T->C 19 6 R 20/200 -7.25 24.1 vitreoretinal traction foveal schisis, yes RD+PVR+ VH falciform fold, bone spicule pigmentation L 20/200 -7 24.5 vitreoretinal traction retinal pigment yes yes falciform fold atrophy, vitreoretinal traction pigmentation 280 280 Ser73Pro 20 6 R 20/40 +1 22.6 falciform fold, foveal schisis no no L 20/40 +1 22.2 falciform fold, vitreoretinal no no foveal schisis vitreous veils traction 281 Ser73Pro 21 6 R 20/60 +2 22.0 vitreous veils no no L 20/40 +1.75 22.3 vitreous veils foveal schisis no no 310 310 Arg102Gln 15 4 R NLP +0.50 22.6 vitrectomy -- yes RD+ surgery (1994) eye atrophy+ strabismus L 20/100 -1.50 23 Vitreoretinal traction foveal schisis yes RD+PVR+ VH retinal pigment + strabismus atrophy 60 60 Asp145His* 16 4 R 20/100 +3 21.6 vitreous veils, foveal schisis yes Yes vitreoretinal traction pigmentation L 20/50 +1.50 22.7 vitreous veils, foveal schisis yes no vitreoretinal traction 190 190 Trp163X* 9 4 R 20/50 +6 20.4 vitreous veils foveal schisis no no L 20/50 +7 20.5 vitreous veils foveal schisis no no 140 140 Arg200Cys 5 4 R 20/30 +0.5 21.5 vitreous veils foveal schisis no no L 20/30 +0.5 21.3 vitreous veils foveal schisis no no 141 Arg200Cys 32 -- R 20/20 -- -- -- -- no no L 20/20 -- -- -- -- no no 142 Arg200Cys 67 -- R 20/20 -- 23.0 no no no no L 20/20 -- 23.0 no no no no 20 20 Arg209His 4 2 R 20/100 +3 20.5 vitreous veils foveal schisis yes RD+ PVR+ VH L enucleation -- -- -- -- -- NVG after virectomy 21 Arg209His 21 5 R 20/50 -2 23.0 vitreous veils foveal schisis no no L 20/100 -4 23.5 Vitreoretinal traction foveal schisis no no 22 Arg209His 16 -- R 20/500 -- 23.9 Vitreoretinal traction foveal schisis yes yes L 20/200 -- 22.5 vitreous veils foveal schisis yes yes retinal traction 240 240 Arg213Gln 18 4 R 20/60 +4 20.9 Vitreoretinal traction foveal schisis yes yes+ nystagmus Bone spicule pigmentation L FC +4.5 20.6 Vitreoretinal traction foveal schisis, yes RD+ VH+ nystagmus retinal pigment atrophy 241 Arg213Gln 9 5 R 20/90 +2.0 20.9 Vitreoretinal traction foveal schisis yes yes Bone spicule pigmentation L 20/60 +1.0 20.0 vitreoretinal traction foveal schisis, yes yes falciform fold, Bone spicule pigmentation 242 Arg213Gln 19 5 R 20/90 +3.0 21.0 vitreous veils, foveal schisis yes yes vitreoretinal traction macular atrophy falciform fold, L 20/100 +4.0 20.8 vitreous veils, foveal schisis yes yes retinaltraction macular atrophy 210 210 Arg213Gln 15 4 R 20/100 +0.5 21.3 vitreoretinal traction foveal schisis yes yes L 20/100 +1 21.0 vitreoretinal traction foveal schisis yes yes 211 Arg213Gln 27 -- R 20/60 +1.5 21.5 vitreoretinal traction foveal schisis yes no L 20/60 +1 21.2 vitreoretinal traction foveal schisis yes no 350 350 Cys223Arg 29 6 R 20/40 -2.5 23.2 vitreous veils foveal schisis no no L 20/60 -4.0 23.5 vitreous veils foveal schisis no no 351 Cys223Arg 79 -- R 20/80 +1.5 22.2 vitreous veils foveal schisis no no L 20/80 +1 22.5 vitreous veils foveal schisis 380 380 Arg156Gly 22 7 R 20/100 +0.5 20.4 vitreoretinal traction foveal schisis no no,+ strabismus L 20/50 +1.5 20.2 vitreous veils foveal schisis no no,+ strabismus 381 Arg156Gly 35 6 R 20/50 +1.5 - vitreous veils foveal schisis no no pigmentation L 20/50 +1.0 - vitreous veils foveal schisis no no pigmentation 382 Arg156Gly 29 5 R 20/40 -1.0 - vitreous veils foveal schisis no no L 20/50 +0.5 - vitreous veils foveal schisis no no 383 Arg156Gly 30 7 R 20/40 +1.0 - Vitreoretina traction foveal schisis no no L 20/30 +0.5 - Vitreoretinal traction foveal schisis no no 384 Arg156Gly 19 6 R 20/40 +0.5 - vitreous veils foveal schisis no no L 20/30 -0.5 - vitreous veils foveal schisis no no |