R102W mutation in the RS1 gene responsible for retinoschisis and recurrent glaucoma
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Supported by the National Key Basic Research Program (2013CB967502, 2013CB967503); Most Major Projects (2012YQ12008004); Qianjiang Talents Project (2012R10072); Zhejiang Provincial Natural Science Foundation of China (No.LR13H120001).
Conflicts of Interest: Huang XF, None; Tu CS, None; Xing DJ, None; Gan DK, None; Xu GZ, None; Jin ZB, None.

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    Abstract:

    AIM: To identify the mutations in RS1 gene associated with typical phenotype of X-linked juvenile retinoschisis (XLRS) and a rare condition of concomitant glaucoma.METHODS: Complete ophthalmic examinations were performed in the proband. The coding regions of the RS1 gene that encode retinoschisin were amplified by polymerase chain reaction and directly sequenced.RESULTS: The proband showed a typical phenotype of XLRS with large peripheral retinal schisis in both eyes, involving the macula and combined with foveal cystic change, reducing visual acuity. A typical phenotype of recurrent glaucoma with high intraocular pressure (IOP) and reduced visual field was also demonstrated with the patient. Mutation analysis of RS1 gene revealed R102W (c.304C>T) mutations in the affected male, and his mother was proved to be a carrier with the causative mutation and another synonymous polymorphism (c.576C>CT).CONCLUSION: We identified the genetic variations of a Chinese family with typical phenotype of XLRS and glaucoma. The severe XLRS phenotypes associated with R102W mutations reveal that the mutation determines a notable alteration in the function of the retinoschisin protein. Identification of the disease-causing mutation is beneficial for future clinical references.

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Xiu-Feng Huang, Chang-Sen Tu, Dong-Jun Xing, et al. R102W mutation in the RS1 gene responsible for retinoschisis and recurrent glaucoma. Int J Ophthalmol, 2014,7(1):169-172

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Publication History
  • Received:May 07,2013
  • Revised:September 27,2013
  • Adopted:September 27,2013
  • Online: February 20,2014
  • Published: