Abstract：
Inherited retinal dystrophies (IRDs) are a global problem that is largely unaddressed, especially in Africa. Black indigenous Africans are rarely represented in research that develops genetic tests and genetic therapies for IRDs, yet their genomes are more diverse. The aim of this literature review is to synthesize information on the IRD genetic research conducted among indigenous black Africans to identify challenges and opportunities for progress. PubMed was searched to identify empirical publications reporting the genetic analysis of IRDs among indigenous Africans. A total of 11 articles were selected for the review. Based on the information in the articles, the main genetic testing methods in use include next-generation, whole exome, and Sanger sequencing. The main IRDs characterized by the genetic tests include retinitis pigmentosa, Leber Congenital Amaurosis, Stagardt disease, and cone dystrophy. Examples of implicated genes include MERTK, GUCY2D, ABCA4, and KCNV2 for the four IRDs, respectively. Research activities on the genetics of IRDs are generally scanty in Africa. Even in South Africa and North Africa where some research activities were noted, only a few indigenous black Africans were included in the study cohorts. There is an urgent need for genetic research on IRDs, especially in East, Central, and West Africa.
摘要：
遗传性视网膜营养不良（IRD）是一个全球性问题，在很大程度上尚未解决，尤其是在非洲。非洲黑人土著很少参与开发IRD基因测试和基因疗法的研究，然而他们的基因组更加多样化。本文献综述的目的是综合在非洲土著黑人中进行的IRD遗传研究的信息，以确定挑战和进步的机会。搜索了PubMed，以确定报告土著非洲人IRD遗传分析的经验出版物。共选择了11篇文章进行审查。根据文章中的信息，使用的主要基因检测方法包括下一代，整个exome，还有Sanger测序.以基因测试为特征的主要IRD包括色素性视网膜炎，Leber先天性黑蒙,Stagardt病,和锥体营养不良。相关基因的例子包括MERTK，GUCY2D,四个IRD的ABCA4和KCNV2，分别。在非洲，关于IRD遗传学的研究活动通常很少。即使在南非和北非，也注意到一些研究活动，只有少数非洲土著黑人被纳入研究队列.迫切需要对IRD进行遗传研究，尤其是在东方,中央,和西非。
