Bietti Crystalline Retinopathy and Juvenile Retinoschisis in a Family With a Novel RS1 Mutation

Bietti crystalline retinopathy is a rare degenerative disease that features bilateral retinal crystals, progressive atrophy of the retinal pigment epithelium and choriocapillaris, and severe visual loss. X-linked retinoschisis (XLRS) is a more common retinal disease characterized by cystic schisis at the fovea and variable peripheral retinoschisis. The gene responsible for XLRS has been identified on the X chromosome and designated RS1.¹ We describe a family of Chinese origin in which a man, his daughter, and his grandson have novel mutations in the RS1 gene. Findings from examination of the grandfather are characteristic of Bietti crystalline retinopathy, the daughter is phenotypically normal, and the grandson has classic XLRS. We believe that RS1 is a candidate gene for some cases of Bietti crystalline retinopathy.