A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family.

ABSTRACT:

Purpose

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.

Methods

The proband underwent complete ophthalmic examinations, including fundus examination, fundus autofluorescence, and optical coherence tomography. DNA extracted from proband and his younger brother was screened for mutations in RS1 gene. The detected RS1 mutation was tested in all available family members and 200 healthy controls.

Results

Reduced visual acuity, spoke-wheel pattern at the fovea, and split retina were observed in the proband. A novel frameshift

SUBMITTER: Huang Y 

PROVIDER: S-EPMC4274291 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature