Abstract
X-linked retinoschisis (XLRS) is one of the leading causes of macular degeneration in male children. The purpose of this study is to describe the clinical characteristics of a Taiwanese family with X-linked retinoschisis (XLRS) and to investigate the genetic mutation in the retinoschisin 1 (RS1) gene. A total of four participants in this XLRS family were analyzed. Complete ophthalmic examinations were performed, including best corrected visual acuity, optical coherence tomography (OCT), and electroretinogram (ERG). Direct DNA sequence of the RS1 gene identified one affected male and one female carrier. The affected male, had a cartwheel-like macular appearance and abnormal retinal pigment epithelium pigmentation in his bilateral eyes. The mixed scotopic ERG b-wave was more reduced than a-wave. OCT revealed typical macular microcystic schisis cavities. Direct DNA sequence analysis revealed a single base pair substitution in Exon 4, 304C > T, resulting in Arg102Trp. Our results show a RS1 (304C > T) mutation in a Taiwanese family with XLRS. This finding expands the clinical profiles of RS1 mutation and may help to further understand its pathogenesis.