Ontology highlight
ABSTRACT:
SUBMITTER: Xiao Y
PROVIDER: S-EPMC4731765 | biostudies-literature | 2016 Jan
REPOSITORIES: biostudies-literature
Xiao Yangyan Y Liu Xiao X Tang Luosheng L Wang Xia X Coursey Terry G TG Guo Xiaojian X Li Zhuo Z
Scientific reports 20160129
X-linked juvenile retinoschisis (XLRS), a leading cause of juvenile macular degeneration, is characterized by a spoke-wheel pattern in the macular region of the retina and splitting of the neurosensory retina. Our study is to describe the clinical characteristics of a four generations of this family (a total of 18 members)with X-linked retinoschisis (XLRS) and detected a novel mutations of c.3G > A (p.M1?) in the initiation codon of the RS1 gene. by direct sequencing.Identification of this mutat ...[more]