vision/eye
• at P14, considerable portions of the retinal surface have fewer outer segments and those present have disc structures that are irregularly oriented
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• at 18 months, some photoreceptor synaptic terminals have multiple synaptic ribbons
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• the percentage of cones in the retina increases from 6 months on, with greater increases in the periphery than in the center of the retina
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• occasional inner segments with swollen endoplasmic reticuli and vacuoles
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• outer segments are delayed in development but eventually appear throughout the retinal surface
• outer segments are reduced in length and morphologically abnormal appearing as round masses present from the apical end of the inner segments to the pigment epthelial villous processes
• these round masses contain irregular whorls of disc membranes that appear to be swollen and vacuolated
• at 18 months, outer segments become reduced and somewhat patchy
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• pigment epithelial cells contain larger and more numerous phagosomes
• peak turnover of phagosomes during the light dark cycle is shifted towards the end of the light period
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• maximal outer nuclear layer thickness is only 50-60% of wild-type
• at 18 months, outer nuclear layer thickness is markedly decreased
• thinning of the outer nuclear layer is first seen in the peripheral retina and later seen in the central retina
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nervous system
• at 18 months, some photoreceptor synaptic terminals have multiple synaptic ribbons
|
• the percentage of cones in the retina increases from 6 months on, with greater increases in the periphery than in the center of the retina
|
• occasional inner segments with swollen endoplasmic reticuli and vacuoles
|
• outer segments are delayed in development but eventually appear throughout the retinal surface
• outer segments are reduced in length and morphologically abnormal appearing as round masses present from the apical end of the inner segments to the pigment epthelial villous processes
• these round masses contain irregular whorls of disc membranes that appear to be swollen and vacuolated
• at 18 months, outer segments become reduced and somewhat patchy
|
pigmentation
• pigment epithelial cells contain larger and more numerous phagosomes
• peak turnover of phagosomes during the light dark cycle is shifted towards the end of the light period
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
retinitis pigmentosa 7 | DOID:0110383 |
OMIM:608133 |
J:25582 |