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Disease mechanism most likely involves mutant protein misfolding and/or modified protein interaction rather than misplicing. ITM2B-related RD is a peculiar, rare, slowly progressive retinal degeneration. Functional exams (ff-ERG and VA) seem more accurate in monitoring the progression in these patients, as imaging tends to be stable over the years. ITM2B-related RD is a peculiar, rare, slowly progressive retinal degeneration. Functional exams (ff-ERG and VA) seem more accurate in monitoring the progression in these patients, as imaging
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