Understanding the Coexistence of Retinoblastoma and Glaucoma

Glaucoma and retinoblastoma are two distinct but interconnected ocular diseases with different origins. In glaucoma, loss of retinal ganglion cells (RGCs) and damage to the optic nerve predominantly occur due to increased intraocular pressure (IOP), with no age limit. In contrast, retinoblastoma is a rare malignant tumor known to affect the infant retina and is associated with a RB1 gene mutation. Although glaucoma and retinoblastoma are distinct ocular diseases, they also share common pathways associated with optic nerve health, retinal damage, and regulation of intraocular pressure. Thus, the coexistence of both conditions poses unique diagnostic and therapeutic challenges. In our understanding, studying the shared mechanisms of retinal cell death could yield insights into novel therapies. It may open avenues, such as how optic nerve damage could be prevented or treated in retinoblastoma-induced glaucoma. This chapter addresses the shared pathophysiological events between glaucoma and retinoblastoma, focusing on how glaucoma exacerbates retinoblastoma progression or vice versa and affects treatment outcomes, along with the current different experimental models, including in vitro , in vivo , and ex vivo model systems, which have been used to understand the coexistence of these diseases. Moreover, this chapter will also highlight the future organoid model system for dual disease studies and offer insights into potential novel therapies. In short, studying a dual model system could enable us to gain a more accurate understanding of the microenvironment, thereby dissecting the complex genetic, molecular, and cellular mechanisms underlying glaucoma and retinoblastoma, especially when both diseases coexist or interact simultaneously.