Michaelides M, Hunt D M, Moore A T
Institute of Ophthalmology, University College London, London, UK.
J Med Genet. 2003 Sep;40(9):641-50. doi: 10.1136/jmg.40.9.641.
The inherited macular dystrophies comprise a heterogeneous group of disorders characterised by central visual loss and atrophy of the macula and underlying retinal pigment epithelium (RPE). The different forms of macular degeneration encompass a wide range of clinical, psychophysical and histological findings. The complexity of the molecular basis of monogenic macular disease is now beginning to be elucidated with the identification of many of the disease-causing genes. Age related macular degeneration (ARMD), the leading cause of blind registration in the developed world, may also have a significant genetic component to its aetiology. Genes implicated in monogenic macular dystrophies are good candidate susceptibility genes for ARMD, although to date, with the possible exception of ABCA4, none of these genes have been shown to confer increased risk of ARMD. The aim of this paper is to review current knowledge relating to the monogenic macular dystrophies, with discussion of currently mapped genes, chromosomal loci and genotype-phenotype relationships. Inherited systemic disorders with a macular dystrophy component will not be discussed.
遗传性黄斑营养不良是一组异质性疾病，其特征为中心视力丧失以及黄斑和视网膜色素上皮（RPE）萎缩。黄斑变性的不同形式涵盖了广泛的临床、心理物理学和组织学表现。随着许多致病基因的鉴定，单基因黄斑疾病分子基础的复杂性正开始被阐明。年龄相关性黄斑变性（ARMD）是发达国家导致失明登记的主要原因，其病因可能也有重要的遗传因素。尽管迄今为止，除ABCA4外，这些基因均未被证明会增加患ARMD的风险，但与单基因黄斑营养不良相关的基因是ARMD的良好候选易感基因。本文旨在综述与单基因黄斑营养不良相关的现有知识，并讨论目前已定位的基因、染色体位点以及基因型-表型关系。本文将不讨论伴有黄斑营养不良成分的遗传性全身性疾病。
