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<b>AIM:</b> To identify the mutations in <i>RS1 </i>gene associated with typical phenotype of X-linked juvenile retinoschisis (XLRS) and a rare condition of concomitant glaucoma.<b>METHODS:</b> Complete ophthalmic examinations were performed in the proband. The coding regions of the <i>RS1</i> gene that encode retinoschisin were amplified by polymerase chain reaction and directly sequenced.<b>RESULTS:</b> 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 <i>RS1</i> gene revealed R102W (c.304C&gt;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&gt;CT).<b>CONCLUSION:</b> 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.