Different mutation of the XLRS1 gene causes juvenile retinoschisis with retinal white flecks

Editor,—Juvenile retinoschisis is an X linked inherited vitreoretinal degeneration that results in splitting of the superficial layers of the retina.1 Retinal white flecks are rarely present in retinoschisis.2 Because we have three families with retinoschisis with retinal white flecks, the clinical features and genetic analysis of both XLRS1 and RDH5 genes were investigated in these families to characterise this unusual fundus finding. ### CASE REPORT #### Case 1 A 17 year old young man was diagnosed as having retinoschisis at 11 months of age. We have reported some of his clinical findings at the age of 10 years.2 His maternal grandfather and his younger brother (case 2) are also known to have this condition (Fig 1a). Both fundi showed the typical star-shaped configuration in the macula and peripheral retinoschisis inferiorly with multiple small white flecks scattered in the temporal posterior pole (Fig 2a). Full field ERG recordings showed markedly reduced scotopic response and even greater reduction in the photopic responses and a negative-type ERG with a single bright flash stimulus. Corrected visual acuity at the age of 17 years was right eye 20/200 with S+4=C−2×160°, and left eye 20/100 with S+4=C−2.5×20°. Figure 1 Genotype of four cases. (a, b) Pedigrees of cases 1, 2, and 4. Solid symbols indicate retinoschisis patients; open symbols, unaffected family members. Arrows …