R102W mutation in the RS1 gene responsible for retinoschisis and recurrent glaucoma.

ABSTRACT:

Aim

To identify the mutations in RS1 gene associated with typical phenotype of X-linked juvenile retinoschisis (XLRS) and a rare condition of concomitant glaucoma.

Methods

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.

Results

The proband showed a typical phenotype of XLRS with large peripheral retinal schisis in both eyes, involving the macula and combined with foveal cystic change, reducing visual acuity. A typical phenotype of recurrent glaucoma with high intraocular pressure (IOP) and reduced visual field was also demonstrated with the patient. Mutation analysis of RS1 gene revealed R102W (c.304C>T) mutations in the affe

SUBMITTER: Huang XF 

PROVIDER: S-EPMC3951554 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature