PDF(Pubmed)
Abstract：
Mutations in the CRB1 gene are associated with a diverse spectrum of retinopathies with phenotypic variability causing severe visual impairment. The CRB1 gene has a role in retinal development and is expressed in the cerebral cortex and hippocampus, but its role in cognition has not been described before. This study compares cognitive function in CRB1 retinopathy individuals with subjects with other retinopathies and the normal population.
METHODS: Neuropsychological tests of cognitive function were used to test individuals with CRB1 and non-CRB1 retinopathies and compare results with a standardised normative dataset.
RESULTS: CRB1 retinopathy subjects significantly outperformed those with non-CRB1 retinopathy in list learning tasks of immediate (p = 0.001) and delayed memory (p = 0.007), tests of semantic verbal fluency (p = 0.017), verbal IQ digit span subtest (p = 0.037), and estimation test of higher execution function (p = 0.020) but not in the remaining tests of cognitive function (p > 0.05). CRB1 retinopathy subjects scored significantly higher than the normal population in all areas of memory testing (p < 0.05) and overall verbal IQ tests (p = 0.0012). Non-CRB1 retinopathy subjects scored significantly higher than the normal population in story recall, verbal fluency, and overall verbal IQ tests (p = 0.0016).
CONCLUSIONS: Subjects with CRB1 retinopathy may have enhanced cognitive function in areas of memory and learning. Further work is required to understand the role of CRB1 in cognition.
METHODS: Neuropsychological tests of cognitive function were used to test individuals with CRB1 and non-CRB1 retinopathies and compare results with a standardised normative dataset.
RESULTS: CRB1 retinopathy subjects significantly outperformed those with non-CRB1 retinopathy in list learning tasks of immediate (p = 0.001) and delayed memory (p = 0.007), tests of semantic verbal fluency (p = 0.017), verbal IQ digit span subtest (p = 0.037), and estimation test of higher execution function (p = 0.020) but not in the remaining tests of cognitive function (p > 0.05). CRB1 retinopathy subjects scored significantly higher than the normal population in all areas of memory testing (p < 0.05) and overall verbal IQ tests (p = 0.0012). Non-CRB1 retinopathy subjects scored significantly higher than the normal population in story recall, verbal fluency, and overall verbal IQ tests (p = 0.0016).
CONCLUSIONS: Subjects with CRB1 retinopathy may have enhanced cognitive function in areas of memory and learning. Further work is required to understand the role of CRB1 in cognition.
摘要：
CRB1基因的突变与多种视网膜病变相关，其表型变异性会导致严重的视力损害。CRB1基因在视网膜发育中起作用，在大脑皮层和海马中表达，但是它在认知中的作用以前还没有描述过。这项研究比较了CRB1视网膜病变个体与其他视网膜病变受试者和正常人群的认知功能。
方法：使用认知功能的神经心理学测验来测试患有CRB1和非CRB1视网膜病变的个体，并将结果与标准化的规范数据集进行比较。
结果：CRB1视网膜病变受试者在即时（p=0.001）和延迟记忆（p=0.007）的学习任务列表中的表现明显优于非CRB1视网膜病变受试者。语义言语流畅性测试(p=0.017)，言语智商数字跨度子检验(p=0.037)，和较高的执行功能的估计测试（p=0.020），但不在其余的认知功能测试（p>0.05）。在记忆测试（p<0.05）和总体言语智商测试（p=0.0012）的所有领域中，CRB1视网膜病变受试者的得分均显着高于正常人群。非CRB1视网膜病变受试者在故事回忆中的得分明显高于正常人群，口语流利,和总体言语智商测试（p=0.0016）。
结论：患有CRB1视网膜病变的受试者可能在记忆和学习方面具有增强的认知功能。需要进一步的工作来了解CRB1在认知中的作用。
方法：使用认知功能的神经心理学测验来测试患有CRB1和非CRB1视网膜病变的个体，并将结果与标准化的规范数据集进行比较。
结果：CRB1视网膜病变受试者在即时（p=0.001）和延迟记忆（p=0.007）的学习任务列表中的表现明显优于非CRB1视网膜病变受试者。语义言语流畅性测试(p=0.017)，言语智商数字跨度子检验(p=0.037)，和较高的执行功能的估计测试（p=0.020），但不在其余的认知功能测试（p>0.05）。在记忆测试（p<0.05）和总体言语智商测试（p=0.0012）的所有领域中，CRB1视网膜病变受试者的得分均显着高于正常人群。非CRB1视网膜病变受试者在故事回忆中的得分明显高于正常人群，口语流利,和总体言语智商测试（p=0.0016）。
结论：患有CRB1视网膜病变的受试者可能在记忆和学习方面具有增强的认知功能。需要进一步的工作来了解CRB1在认知中的作用。
