目的分析眼底正常型先天性静止性夜盲(congenital stationary night blindness,CSNB)患儿的电生理与基因检查结果。方法回顾性分析2019年8月至2025年3月经临床检查及基因检测确诊为CSNB的儿童,共11例纳入研究。分析其全视野视网膜电图(f...目的分析眼底正常型先天性静止性夜盲(congenital stationary night blindness,CSNB)患儿的电生理与基因检查结果。方法回顾性分析2019年8月至2025年3月经临床检查及基因检测确诊为CSNB的儿童,共11例纳入研究。分析其全视野视网膜电图(full-field electroretinogram,ffERG)特征及基因检查结果。结果11例患儿中男性10例,女性1例,年龄为(7.5±2.1)岁。患儿戴镜后矫正视力为0.48±0.11,验光结果中1例远视,余均为近视。眼底照相检查除高度近视表现为豹纹状改变外,余眼底未见明显异常。ffERG检查所有患儿暗视ERG 3.0/10.0的a波幅值正常或轻中度降低,b波振幅显著下降,b波和a波的振幅比<1,为负相波,属于CSNB Schubert-Bornschein波型。基因检测结果发现,11例患儿均携带致病性基因突变,其中6例为CACNA1F基因突变,2例为GPR179基因突变,2例为NYX基因突变,1例为GRM6基因突变。结论对于眼底表现正常但戴镜矫正视力低于正常的患儿,应尽早进行ffERG检查,排查CSNB,并结合基因检查进行确诊,有助于评估疾病的遗传性及其预后,提高早期发现机会,减少过度的弱视训练和治疗。展开更多
This review focuses on the fetal origins of adult disease hypothesis put forward by David Barker and his colleagues,recent advances in epidemiological studies and experimental research in this field.Barker Hypothesis ...This review focuses on the fetal origins of adult disease hypothesis put forward by David Barker and his colleagues,recent advances in epidemiological studies and experimental research in this field.Barker Hypothesis states that environmental factors,particularly intrauterine nutrition,as indicated by birth weight,operate in early life to program the risks for adverse health outcomes in adult life.A large growing body of reports described the association between the early development and adult diseases,such as diabetes,hypertension,coronary heart disease,abnormal lipids metabolism,obesity and cancer,etc.Experimental studies show that the changes of some key genes’ expression,caused by epigenetic modifications,lead to a permanent alteration of cellular proliferation and differentiation and finally the genesis in key tissues and organs.These results bring about the impairment in structures and functions and the increased susceptibility to chronic diseases in adult life.The hypothesis provides a new perspective for the prevention and therapy of chronic diseases.展开更多
文摘This review focuses on the fetal origins of adult disease hypothesis put forward by David Barker and his colleagues,recent advances in epidemiological studies and experimental research in this field.Barker Hypothesis states that environmental factors,particularly intrauterine nutrition,as indicated by birth weight,operate in early life to program the risks for adverse health outcomes in adult life.A large growing body of reports described the association between the early development and adult diseases,such as diabetes,hypertension,coronary heart disease,abnormal lipids metabolism,obesity and cancer,etc.Experimental studies show that the changes of some key genes’ expression,caused by epigenetic modifications,lead to a permanent alteration of cellular proliferation and differentiation and finally the genesis in key tissues and organs.These results bring about the impairment in structures and functions and the increased susceptibility to chronic diseases in adult life.The hypothesis provides a new perspective for the prevention and therapy of chronic diseases.
