Currently, there is no therapy that is proven to prevent the blood vessel deterioration. In 2021, Dr. Jonathan Miner of the University of Pennsylvania (Penn) in Philadelphia, and the Hospital of the University of Pennsylvania (Penn Medicine), initiated a clinical trial of crizanlizumab for RVCL. The University of Pennsylvania also sponsors RVCL patient support groups, and collaborates with the RVCL Research Center at Washington University (WashU) on clinical trials and longitudinal studies. Dr. Miner also established a large RVCL Research Center, which is conducting clinical trials, performing basic research, and developing novel personalized therapies for RVCL. This includes small molecular inhibitors (to be taken as pills) and gene therapy approaches, with the goal of fully correcting the disease-causing mutation. Developing these personalized therapies is a challenging process that will take years.
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Multifocal choroiditis and panuveitis
Diffuse unilateral subacute neuroretinitis
Cerebroretinal microangiopathy with calcifications and cysts
Uveitis–Glaucoma–Hyphema syndrome
Chronic relapsing inflammatory optic neuropathy
Acute posterior multifocal placoid pigment epitheliopathy
Late congenital syphilitic oculopathy