The molecular basis of human retinal and vitreoretinal diseases
The molecular basis of human retinal and vitreoretinal diseases
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DOI：
10.1016/j.preteyeres.2010.03.004
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发表时间：
2010-09-01
影响因子：
17.8
通讯作者：
Neidhardt, John
中科院分区：
文献类型：
--
作者：
Berger, Wolfgang;Kloeckener-Gruissem, Barbara;Neidhardt, John
在过去的二三十年里，大量的工作揭示了许多人类疾病的分子基础，包括视网膜和玻璃体视网膜退化和功能障碍。虽然它们属于孤儿疾病组，但全世界可能有200多万人受到影响。最令人兴奋的是，治疗一种特殊形式的先天性视网膜变性现在是可能的。治疗的一个主要优势是眼睛及其不同组成部分的独特结构和可访问性，包括玻璃体和视网膜。了解影响视网膜结构和功能的许多不同的眼病(夜盲和色盲、视网膜色素变性、视锥和视锥视杆营养不良、光感受器功能障碍以及玻璃体视网膜特征)对于未来的治疗发展至关重要。我们试图呈现这些疾病的全面图景，包括生物学、临床、遗传和分子信息。综述的结构组织引导读者通过非综合征和综合征的形式(I)视杆主导性疾病，(Ii)视锥主导性疾病，(Iii)全身性视网膜变性和(Iv)玻璃体视网膜疾病，由超过165个基因的突变引起。临床变异性和遗传异质性对受影响家庭的基因检测和咨询有重要影响。由于表型并不总是与相应的基因类型相关，因此临床医生、遗传学家、咨询师、诊断实验室和基础研究人员必须了解表型表现与特定基因之间的关系，以及突变和病理生理机制。我们讨论未来的前景。(C)2010爱思唯尔有限公司。保留所有权利。
During the last two to three decades, a large body of work has revealed the molecular basis of many human disorders, including retinal and vitreoretinal degenerations and dysfunctions. Although belonging to the group of orphan diseases, they affect probably more than two million people worldwide. Most excitingly, treatment of a particular form of congenital retinal degeneration is now possible. A major advantage for treatment is the unique structure and accessibility of the eye and its different components, including the vitreous and retina. Knowledge of the many different eye diseases affecting retinal structure and function (night and colour blindness, retinitis pigmentosa, cone and cone rod dystrophies, photoreceptor dysfunctions, as well as vitreoretinal traits) is critical for future therapeutic development. We have attempted to present a comprehensive picture of these disorders, including biological, clinical, genetic and molecular information. The structural organization of the review leads the reader through non-syndromic and syndromic forms of (i) rod dominated diseases, (ii) cone dominated diseases, (iii) generalized retinal degenerations and (iv) vitreoretinal disorders, caused by mutations in more than 165 genes. Clinical variability and genetic heterogeneity have an important impact on genetic testing and counselling of affected families. As phenotypes do not always correlate with the respective genotypes, it is of utmost importance that clinicians, geneticists, counsellors, diagnostic laboratories and basic researchers understand the relationships between phenotypic manifestations and specific genes, as well as mutations and pathophysiologic mechanisms. We discuss future perspectives. (C) 2010 Elsevier Ltd. All rights reserved.