Challenges and Opportunities in the Genetic Analysis of Inherited Retinal Dystrophies in Africa, a Literature Review

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.

Automated summary

Inherited retinal dystrophies (IRDs) are a global problem, with limited research conducted among indigenous black Africans. This literature review aims to identify challenges and opportunities for progress in IRD genetic research conducted among indigenous Africans. The review identified 11 articles, highlighting the use of next-generation sequencing, whole exome sequencing, and Sanger sequencing as the main genetic testing methods. The main IRDs characterized were retinitis pigmentosa, Leber Congenital Amaurosis, Stagardt disease, and cone dystrophy, with implicated genes including MERTK, GUCY2D, ABCA4, and KCNV2.