Features of generation and differentiation of induced pluripotent stem cells into retinal cells for modeling human hereditary diseases

The utilization of technology for the generation of induced pluripotent stem cells (iPSCs) and their subsequent differentiation is a promising approach for the study of disease pathogenesis and development of methods for treating optical neuropathies and retinopathy, which are the most common types of visual pathologies, in which retinal ganglion cells degenerate (consequently, optic nerve atrophy) or pigment epithelial cells and photoreceptors are affected, respectively. The prospect of patient-specific iPSCs has become a powerful alternative tool for discovering novel disease-causing mutations, studying genotype–phenotype relationships, screening therapeutic toxicity, and developing personalized cell therapy for optical neuropathies and retinopathies.

Numerous studies have demonstrated the possibility of creating different types of retinal cells from iPSCs, which provides a rapid development of the research area of human diseases for which no relevant animal models are available or access to primary human tissues and cells is limited.

This review presents various protocols for generating iPSCs from somatic cells and their subsequent differentiation, with an emphasis on the observed biological effects of the resulting cell cultures, including organoids, and discusses the prospects of using such models. The article may be useful to researchers studying the pathogenesis of various hereditary forms of blindness and developers of approaches for the treatment of these diseases who need a relevant cellular model.