Onset and Progression of Disease in Nonhuman Primates With PDE6C Cone Disorder.

ABSTRACT:

Purpose

The California National Primate Research Center contains a colony of rhesus macaques with a homozygous missense mutation in PDE6C (R565Q) which causes a cone disorder similar to PDE6C achromatopsia in humans. The purposes of this study are to characterize the phenotype in PDE6C macaques in detail to determine the onset of the cone phenotype, the degree to which the phenotype progresses, if heterozygote animals have an intermediate phenotype, and if rod photoreceptor function declines over time.

Methods

We analyzed spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF), and electroretinography (ERG) data from 102 eyes of 51 macaques (aged 0.25 to 16 years). Measurements of retinal layers as well as cone and rod function over time were qua

SUBMITTER: Ardon M 

PROVIDER: S-EPMC11629912 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature