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

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...

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Veröffentlicht in:	Investigative ophthalmology & visual science 2024-12, Vol.65 (14), p.16
Hauptverfasser:	Ardon, Monica, Nguyen, Lily, Chen, Rui, Rogers, Jeffrey, Stout, Tim, Thomasy, Sara, Moshiri, Ala
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Color Vision Defects - genetics Color Vision Defects - physiopathology Cone Dystrophy - genetics Cone Dystrophy - physiopathology Cyclic Nucleotide Phosphodiesterases, Type 6 - genetics Disease Models, Animal Disease Progression Electroretinography Female Fluorescein Angiography - methods Homozygote Macaca mulatta Male Mutation, Missense Phenotype Retina Retinal Cone Photoreceptor Cells - pathology Retinal Rod Photoreceptor Cells - pathology Retinal Rod Photoreceptor Cells - physiology Tomography, Optical Coherence - methods
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