vision/eye
• ophthalmoscopy as early as 3 weeks of age shows small white retinal spots, vitreal fibroplasia, and vessel tortuosity, and fluorescein angiography shows hypervascularization of the retina
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• vascular tortuosity of the retina as early as 3 weeks of age
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• hypervascularization of the retina as early as 3 weeks of age
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• in some cases Muller cell end-feet are found to protrude into the vitreous
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• at 2 days of age electron microscopy shows the inner limiting membrant to be normal in some areas but absent or severely attenuated in others
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• at 12 weeks of age approximately 20% of homozygotes have a loss of cells in the peripheral area of the retinal ganglion cell layer and by 9 months of age this is found in 80% of homozygotes
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• although the central retina remains normal in thickness even at 18 months of age, there is a reduction in the number of cells in the peripheral inner nuclear layer appearing between 8 and 12 weeks of age and progressing slowly until approximately 1 year of age
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retina spots
(
J:160722
)
• ophthalmoscopy as early as 3 weeks of age shows small white retinal spots
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• ectopic cells that appear to be astrocytes and retinal ganglion cells are found in the vitreous
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• between birth and 1 day of age the astrocytes that nromally extend in a honeycomb pattern across the developing retina instead condense around the optic disc and many appear to lie within the vitreous and associate with the hyaloid vessels, at 7 days of age most blood vessels are observed in the vitreous rather than the retinas and some hyaloid vessels begin to bud rather than regress at this stage, at 10 days of age most of the larger vessels in the retinas are of hyaloid origin, and at 21 days of age the retinas still lack a normal retinal primary plexus and the larger, primary plexus-like vessels are found within the vitreous rather than the retinas
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• vitreal fibroplasia presents as cobweb-like material covering the retina at 8 weeks of age
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• dark and light adapted electroretinogram testing at 6.5 months, 8.5 months, and one year of age reveals waveforms that are comparable with wild-type controls but of reduced amplitude with both alpha and beta waves reduced consistently across flash intensities for dark adapted homozygotes
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cardiovascular system
• vascular tortuosity of the retina as early as 3 weeks of age
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• hypervascularization of the retina as early as 3 weeks of age
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nervous system
• in some cases Muller cell end-feet are found to protrude into the vitreous
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