Ontology highlight
ABSTRACT:
SUBMITTER: Huang Y
PROVIDER: S-EPMC4274291 | biostudies-literature | 2014 Nov
REPOSITORIES: biostudies-literature
Huang Y Y Mei L L Gui B B Su W W Liang D D Wu L L Pan Q Q
Eye (London, England) 20140829 11
<h4>Purpose</h4>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. This study aimed to identify the underlying genetic defect in a Chinese family with XLRS.<h4>Methods</h4>The proband underwent complete ophthalmic examinations, including fundus examination, fundus autofluorescence, and optical coherence tomography. DNA extracted from proba ...[more]