vision/eye
• hyperpigmentation of the retinal pigment epithelium is evident within severely affectes areas
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• at 4 and 26 weeks, a general disorganization of the ganglion cell layer is observed, with some nuclei migrating into the inner plexiform layer
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• at 4 and 26 weeks, occasional changes in the inner nuclear layers are observed
• nuclei from the inner nuclear layer are occasionally displaced into the photoreceptor layer
• even when inner nuclear and photoreceptor layers are only mildly affected, the changes within the vitreous body and the ganglion cell layer are prominent
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• at 4 and 26 weeks, occasional changes in the outer nuclear layers are observed
• nuclei from the outer nuclear layer are occasionally displaced into the outer plexiform and the inner nuclear layer
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• the outer plexiform layer disappears in severely affected areas
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• relocation of nuclei from the inner nuclear layers into the photoreceptor layer leads to the disappearance of photoreceptors
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• the outer segments of the photoreceptor cells disappear within severely affected areas
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• at 3 weeks, 3 of 6 male hemizygotes exhibit conspicuous precipitate-like retrolental structures in the vitreous body; the variation in number and size of precipitates is age-independent
• by 10-20 weeks, all male hemizygotes show pathological signs with a variable age of onset
• in addition to the precipitates, depigmented bundles or stripes are noted in some eyes and interpreted as retinal folding or detachment
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• at 4 and 26 weeks, fibrous masses (retrolental patterns) are observed within the vitreous bodies of all eyes examined
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pigmentation
• hyperpigmentation of the retinal pigment epithelium is evident within severely affectes areas
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nervous system
• relocation of nuclei from the inner nuclear layers into the photoreceptor layer leads to the disappearance of photoreceptors
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• the outer segments of the photoreceptor cells disappear within severely affected areas
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
exudative vitreoretinopathy | DOID:0050535 |
OMIM:PS133780 |
J:158585 | |
Norrie disease | DOID:0060844 |
OMIM:310600 |
J:30902 |