The Use of Human Pluripotent Stem Cells (hPSCs) and CRISPR-Mediated Gene Editing in Retinal Diseases

The human retina is one of the most complex tissues of the body, composed of various specialized cells organized in a fashion that enables the reception, conversion, preliminary-processing and final transmission of light signals to the brain. Dysfunction of any of the retinal cell types essential for normal vision ultimately leads to vision decline and potentially blindness. Diseases affecting the retina and optic nerve can broadly be divided into two forms, either complex or monogenic diseases. Complex, multifactorial diseases include age-related macular degeneration and glaucoma. Rarer heritable retinopathies and optic neuropathies, often affecting the young, include Stargardt Disease, Usher Syndrome, Leber’s Hereditary Optic Neuropathy, Best Disease, Choroideremia and Retinitis Pigmentosa. To understand the genetic and pathological features of retinal diseases, it is imperative that appropriate models and technologies are implemented to enhance the prospects of therapies for patients. For the purpose of this chapter, we will focus on the current technologies used for generating retinal disease models in vitro, and how gene-editing technologies such as CRISPR/Cas are propelling ophthalmic research into the spotlight.