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

Li, Mol Vis 2007; 13:804-812 <http://www.molvis.org/molvis/v13/a88/>
©2007 Molecular Vision <http://www.molvis.org/molvis/>
ISSN 1090-0535