Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene.

To assess the clinical features of and identify genetic defects in six Chinese families with X-linked retinoschisis (XLRS). Patients were recruited from ophthalmic clinics in Peking Union Medical College Hospital. A cohort of six unrelated families was identified. Clinical evaluation was performed on eight affected males (six probands) and five female carriers. Genomic DNA was extracted from peripheral leukocytes. All exons and the flanking introns of the RS1 gene were amplified by polymerase chain reaction and screened for mutations by direct DNA sequencing. One hundred control X chromosomes were screened by direct sequencing to exclude nonpathogenic polymorphisms. Typical foveal schisis was found in all eight patients, while peripheral schisis was noted in six patients. The six probands displayed electronegative electroretinography (ERG) in the standard combined response, while the remaining two patients showed non-recordable waveforms. Two novel mutations (W112X and S134P) and three previously identified missense mutations (R102Q, R200H, and R213W) were found. None of these novel nucleotide variations were observed in any of 100 ethnically matched control chromosomes. Chinese patients with XLRS displayed variability in phenotypes. Novel mutations in RS1 were associated with these patients. Identification of the disease-causing mutations in suspected families can help to confirm the diagnosis for the patients and recommend genetic counseling for the female carriers. In addition, genetic testing could provide important information for future treatment.