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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.
Weinberg DV, Sieving PA, Bingham EL, Jampol LM, Mets MB. Bietti Crystalline Retinopathy and Juvenile Retinoschisis in a Family With a Novel RS1 Mutation. Arch Ophthalmol. 2001;119(11):1719–1721. doi:
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