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| A homozygous four nucleotide (AAGA) deletion in the RPE65 gene in a form of retinal dystrophy in dogs of the Swedish Briard breed. Dogs show prominent RPE inclusions and slightly abnormal rod photoreceptor morphology early in life, and slowly progressive photoreceptor degeneration. Photoreceptors are slightly disorganized at the posterior pole and equator. ERG analysis revealed severely decreased rod and cone responses  |
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Rpe65 deficient mice exhibit changes in retinal physiology and biochemistry: outer segment discs of rod photoreceptors are disorganized, rod function is abolished and cone function remains, lack of rhodopsin but no opsin, over-accumulation in the RPE of all-trans-retinyl esters |
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In aged Rpe65-/- mouse, opsin levels decrease because of the loss of photoreceptors but the remaining opsin is structurally intact, and the components of the phototransduction cascade and the retinal circuitry remain functional |
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In the Rpe65-/- mouse the expression of cone-specific genes is downregulated at early ages leading to cone photoreceptors degeneration |
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rd12 mice, a natural model for human RPE65 mutations, exhibit small punctate white spots on fundus examination at 5 months of age, no RPE65 expression, 11-cis retinal, or rhodopsin, accumulation of retinyl esters in the retinal pigment epithelium. First sign of retinal degeneration was detected at the electron microscopic level around 3 weeks of age |
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Circadian phase shifting responses in Rpe65(-/-) mice are attenuated and the number of melanopsin-immunoreactive perikarya and the extent of dendritic arborizations are decreased |
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adult canine RPE65 model displays altered expression of cone arrestin and delocalization of rod opsin, outer nuclear bipolar cells sprouting of the dendritic arbors toward the outer nuclear layer and retraction of their axons in the inner nuclear layer ( |
