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

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 develop 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 10 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 in the study cohorts. There is an urgent need for genetic research on IRDs, especially in East, Central, and West Africa.

Organization of Prevention, Early Detection and Treatment of Genetically Determined Ophthalmological Problems in Azerbaijan

“…The above demonstrates the need for both doctors and social services to work together to more actively inform the population about the causes of the birth of children with genetic pathology. The data provided in the world literature indicate the relevance of this problem in different countries [2,5,6,9,11,13]. The creation of a clear system of informing and helping patients with genetic abnormalities will reduce the number of visually impaired people.…”

“…Genetically determined pathology of the eye is quite common [1,2]. According to the literature, this problem is the highly prevalent in those countries where the percentage of related marriages is high [1][2][3][4][5][6][7]. In some cases, hereditary pathology causes disability from the early childhood [1, 2,5,8].…”

“…According to the literature, this problem is the highly prevalent in those countries where the percentage of related marriages is high [1][2][3][4][5][6][7]. In some cases, hereditary pathology causes disability from the early childhood [1, 2,5,8]. The correct approach to the problem of detecting the presence of abnormalities in early pregnancy, timely diagnosis and treatment in many cases helps to avoid the birth of children with genetic abnormalities and preserve the patient's vision.…”