Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.
Institute of Ophthalmology, University College London (UCL), London EC1V 9EL, UK.
Genes (Basel). 2024 May 22;15(6):660. doi: 10.3390/genes15060660.
Mutations in the gene are associated with a diverse spectrum of retinopathies with phenotypic variability causing severe visual impairment. The 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 retinopathy individuals with subjects with other retinopathies and the normal population.
Neuropsychological tests of cognitive function were used to test individuals with and non- retinopathies and compare results with a standardised normative dataset.
retinopathy subjects significantly outperformed those with non- retinopathy in list learning tasks of immediate ( = 0.001) and delayed memory ( = 0.007), tests of verbal fluency ( = 0.017), verbal IQ digit span subtest ( = 0.037), and estimation test of higher execution function ( = 0.020) but not in the remaining tests of cognitive function ( > 0.05). retinopathy subjects scored significantly higher than the normal population in all areas of memory testing ( < 0.05) and overall verbal IQ tests ( = 0.0012). Non- retinopathy subjects scored significantly higher than the normal population in story recall, verbal fluency, and overall verbal IQ tests ( = 0.0016).
Subjects with retinopathy may have enhanced cognitive function in areas of memory and learning. Further work is required to understand the role of in cognition.
基因中的突变与多种视网膜病变相关,表型变异性导致严重的视力损害。该基因在视网膜发育中起作用,并在大脑皮层和海马体中表达,但它在认知中的作用以前尚未描述过。本研究比较了 视网膜病变个体与其他视网膜病变和正常人群的认知功能。
使用认知功能神经心理学测试来测试患有和不患有视网膜病变的个体,并将结果与标准化的规范数据集进行比较。
视网膜病变受试者在即时(= 0.001)和延迟记忆(= 0.007)的列表学习任务、言语流畅性测试(= 0.017)、言语智商数字跨度子测试(= 0.037)和更高执行功能的估计测试(= 0.020)中明显优于非视网膜病变受试者,但在其余认知功能测试中(> 0.05)并非如此。视网膜病变受试者在所有记忆测试领域(< 0.05)和整体言语智商测试中(= 0.0012)的得分均明显高于正常人群。非视网膜病变受试者在故事回忆、言语流畅性和整体言语智商测试中(= 0.0016)的得分明显高于正常人群。
患有视网膜病变的受试者在记忆和学习方面的认知功能可能增强。需要进一步研究以了解基因在认知中的作用。