Ontology highlight
ABSTRACT:
SUBMITTER: Huang XF
PROVIDER: S-EPMC3951554 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Huang Xiu-Feng XF Tu Chang-Sen CS Xing Dong-Jun DJ Gan De-Kang DK Xu Ge-Zhi GZ Jin Zi-Bing ZB
International journal of ophthalmology 20140218 1
<h4>Aim</h4>To identify the mutations in RS1 gene associated with typical phenotype of X-linked juvenile retinoschisis (XLRS) and a rare condition of concomitant glaucoma.<h4>Methods</h4>Complete ophthalmic examinations were performed in the proband. The coding regions of the RS1 gene that encode retinoschisin were amplified by polymerase chain reaction and directly sequenced.<h4>Results</h4>The proband showed a typical phenotype of XLRS with large peripheral retinal schisis in both eyes, involv ...[more]