title: The gene mutation in a Taiwanese family with X-linked retinoschisis.
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.
authors.affiliation: Department of Ophthalmology, Buddhist Tzu Chi General Hospital, Hualien, Taiwan.
authors.forename: Chin-Te
authors.initials: CT
authors.lastname: Huang
authors.affiliation: Tzu Chi Stem Cells Center, Buddhist Tzu Chi General Hospital, Hualien, Taiwan.
authors.forename: Shee-Ping
authors.initials: SP
authors.lastname: Chen
authors.affiliation: Institute of Medical Sciences, Tzu Chi University, Hualien, Taiwan; Institute of Eye Research, Buddhist Tzu Chi General Hospital, Hualien, Taiwan. Electronic address: rktsai@tzuchi.com.tw.
authors.forename: Rong-Kung
authors.initials: RK
authors.lastname: Tsai
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D005654:Fundus Oculi; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D041441:Retinoschisis / Q000235:genetics* / Q000473:pathology; D013624:Taiwan
keywords: Electroretinogram; Gene mutation; Optical coherence tomography; X-linked retinoschisis