pigmentation
• abnormal interface between apical microvilli and outer segments
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• depigmentation by 14 weeks
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vision/eye
• substantial decrease in photoreceptors by three weeks of age
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• outer segments appear as whorls without proper orientation to retinal pigment epithelium layer by day 14
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• cones fail to form elongated outer segments during the second postnatal week
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• rods fail to form elongated outer segments during the second postnatal week
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• abnormal interface between apical microvilli and outer segments
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• depigmentation by 14 weeks
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• inner nuclear layer thinned by one year of age
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• inner plexiform layer thinned by one year of age
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• outer nuclear layer reduced to a single row of photoreceptors by 14 weeks
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• severe retinal degeneration by 14 weeks
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• lack of response to electroretinography
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nervous system
• substantial decrease in photoreceptors by three weeks of age
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• outer segments appear as whorls without proper orientation to retinal pigment epithelium layer by day 14
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• cones fail to form elongated outer segments during the second postnatal week
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• rods fail to form elongated outer segments during the second postnatal week
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