Figure 2.

A somatic cell from the patient is used to derive induced pluripotent stem cells (iPSCs). The iPSC colonies are characterised to ensure pluripotency markers are present, they form teratoma or embryoid body and they have stable chromosomes. It may take up to three months to derive and validate iPSC lines. The validated iPSC colonies are differentiated to form optic vesicle structures, which contain retinal pigment epithelium and neural retinal cells. Mature retinal cells can be used for confirming the pathogenicity of newly-discovered genetic variants, modelling of developmental or degenerative retinal disease, testing of pharmacologic agents or gene therapy and autologous cellular therapy.