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视网膜色素变性

Retinitis pigmentosa.

作者信息

Hartong Dyonne T, Berson Eliot L, Dryja Thaddeus P

机构信息

Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA.

出版信息

Lancet. 2006 Nov 18;368(9549):1795-809. doi: 10.1016/S0140-6736(06)69740-7.

Abstract

Hereditary degenerations of the human retina are genetically heterogeneous, with well over 100 genes implicated so far. This Seminar focuses on the subset of diseases called retinitis pigmentosa, in which patients typically lose night vision in adolescence, side vision in young adulthood, and central vision in later life because of progressive loss of rod and cone photoreceptor cells. Measures of retinal function, such as the electroretinogram, show that photoreceptor function is diminished generally many years before symptomic night blindness, visual-field scotomas, or decreased visual acuity arise. More than 45 genes for retinitis pigmentosa have been identified. These genes account for only about 60% of all patients; the remainder have defects in as yet unidentified genes. Findings of controlled trials indicate that nutritional interventions, including vitamin A palmitate and omega-3-rich fish, slow progression of disease in many patients. Imminent treatments for retinitis pigmentosa are greatly anticipated, especially for genetically defined subsets of patients, because of newly identified genes, growing knowledge of affected biochemical pathways, and development of animal models.

摘要

人类视网膜的遗传性退化在基因上具有异质性,到目前为止涉及的基因已超过100种。本次研讨会聚焦于一类名为色素性视网膜炎的疾病子集,在这类疾病中,患者通常在青春期丧失夜间视力,在成年早期丧失周边视力,在晚年丧失中心视力,原因是视杆和视锥光感受器细胞逐渐丧失。视网膜功能的检测方法,如视网膜电图,显示在出现症状性夜盲、视野暗点或视力下降之前,光感受器功能通常已在多年前就开始减退。已鉴定出45种以上与色素性视网膜炎相关的基因。这些基因仅占所有患者的约60%;其余患者存在尚未确定的基因缺陷。对照试验的结果表明,营养干预措施,包括棕榈酸视黄酯和富含ω-3的鱼类,可减缓许多患者的疾病进展。由于新发现的基因、对受影响生化途径的了解不断增加以及动物模型的开发,人们对色素性视网膜炎的紧迫治疗方法寄予厚望,尤其是对于基因明确的患者亚群。

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