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Bietti Crystalline Retinopathy and Juvenile Retinoschisis in a Family With a Novel RS1 Mutation
Arch Ophthalmol. 2001;119:1719-1721.
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INTRODUCTION
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.
Report of Cases
A 60-year-old Chinese man with poor vision in both eyes since childhood was evaluated. Visual acuity was counting fingers OD and 20/200 OS. There were no corneal . . . [Full Text of this Article]
Comment
Corresponding author and reprints: David V. Weinberg, MD, 645 N Michigan Ave, Suite 440, Chicago, IL 60611 (e-mail: d-weinberg2@northwestern.edu).
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