RPGR-associated retinal degeneration in human X-linked RP and a murine model.

ABSTRACT:

Purpose

We investigated the retinal disease due to mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in human patients and in an Rpgr conditional knockout (cko) mouse model.

Methods

XLRP patients with RPGR-ORF15 mutations (n = 35, ages at first visit 5-72 years) had clinical examinations, and rod and cone perimetry. Rpgr-cko mice, in which the proximal promoter and first exon were deleted ubiquitously, were back-crossed onto a BALB/c background, and studied with optical coherence tomography and electroretinography (ERG). Retinal histopathology was performed on a subset.

Results

Different patterns of rod and cone dysfunction were present in patients. Frequently, there were midperipheral losses with residual rod and cone function in central and peripher

SUBMITTER: Huang WC 

PROVIDER: S-EPMC3422104 | biostudies-literature | 2012 Aug

REPOSITORIES: biostudies-literature