Characterization of a canine model of autosomal recessive retinitis pigmentosa due to a PDE6A mutation.

ABSTRACT:

Purpose

To characterize a canine model of autosomal recessive RP due to a PDE6A gene mutation.

Methods

Affected and breed- and age-matched control puppies were studied by electroretinography (ERG), light and electron microscopy, immunohistochemistry, and assay for retinal PDE6 levels and enzymatic activity.

Results

The mutant puppies failed to develop normal rod-mediated ERG responses and had reduced light-adapted a-wave amplitudes from an early age. The residual ERG waveforms originated primarily from cone-driven responses. Development of photoreceptor outer segments stopped, and rod cells were lost by apoptosis. Immunohistochemistry demonstrated a marked reduction in rod opsin immunostaining outer segments and relative preservation of cones early in the disease proc

SUBMITTER: Tuntivanich N 

PROVIDER: S-EPMC3720143 | biostudies-literature | 2009 Feb

REPOSITORIES: biostudies-literature