Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis.

ABSTRACT:

Purpose

X-linked juvenile retinoschisis (XLRS) is a vitreoretinal dystrophy characterized by schisis (splitting) of the inner layers of the neuroretina. Mutations within the retinoschisis (RS1) gene are responsible for this disease. The mutation spectrum consists of amino acid substitutions, splice site variations, small indels, and larger genomic deletions. Clinically, genomic deletions are rarely reported. Here, we characterize two novel full exonic deletions: one encompassing exon 1 and the other spanning exons 4-5 of the RS1 gene. We also report the clinical findings in these patients with XLRS with two different exonic deletions.

Methods

Unrelated XLRS men and boys and their mothers (if available) were enrolled for molecular genetics evaluation. The patients also underw

SUBMITTER: D'Souza L 

PROVIDER: S-EPMC3820431 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature