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Defects in the cilia gene  RPGRIP1  cause Leber congenital amaurosis and cone-rod dystrophy in humans. A form of canine cone-rod dystrophy (cord1) was originally associated with a homozygous insertion in  RPGRIP1  ( RPGRIP1   ins/ins ) as the primary disease locus while a homozygous deletion in  MAP9  ( MAP9   del/del ) was later identified as a modifier associated with the early onset form. However, we find further variability in cone electroretinograms (ERGs) ranging from normal to absent in an extended  RPGRIP1   ins/ins  canine colony, irrespective of the  MAP9  genotype. Ophthalmoscopically, cone ERG absent   RPGRIP1   ins/ins  eyes show discolouration of the tapetal fundus with varying onset and disease progression, while sd-OCT reveals atrophic changes. Despite marked changes in cone ERG and retinal morphology, photopic vision-guided behaviour is comparable between normal and cone ERG absent   RPGRIP1   ins/ins  littermates. Cone morphology of the dogs lacking cone ERG are truncated with shortened outer and inner segments. Immunohistochemically, cone ERG absent   RPGRIP1   ins/ins  retinas have extensive L/M-opsin mislocalization, lack CNGB3 labelling in the L/M-cones, and lack GC1 in all cones. Our results indicate that cord1 is a multigenic disease in which mutations in neither  RPGRIP1  nor  MAP9  alone lead to visual deficits, and additional gene(s) contribute to cone-specific functional and morphologic defects.

Variabilities in retinal function and structure in a canine model of cone-rod dystrophy associated with RPGRIP1 support multigenic etiology