Deep phenotyping of the Cdhr1-/- mouse validates its use in pre-clinical studies for human CDHR1-associated retinal degeneration.
Yusuf IH., McClements ME., MacLaren RE., Charbel Issa P.
PURPOSE: To validate the Cdhr1-/- mouse as a model for human CDHR1-associated retinal degeneration, which may present as cone-rod dystrophy or geographic atrophy. METHODS: Deep phenotyping of Cdhr1-/-(n = 56) and C57BL6J wildtype control mice (n = 45) was undertaken using in vivo multimodal retinal imaging and dark- and light-adapted electroretinography (ERG) over 15 months to evaluate rod- and cone-photoreceptor responses and retinal morphology. RESULTS: Cdhr1-/- retinas exhibited outer retinal thinning on optical coherence tomography (OCT) at 1-month versus C57BL6J (mean 14.6% reduction; P