X-Linked Retinitis Pigmentosa: Integrating Genetic Testing and Counseling to Improve Assessment and the Promise of Gene Therapy

Author(s)/Faculty: Alessandro Iannaccone, MD, MS, FARVO; Cagri G. Besirli, MD, PhD, FASRS; Christine Nichols Kay, MD
Release Date: 11/17/2021Expiration Date: 11/16/2022
Credit Type: CME / CME with ABO Continuing Certification Number of Credits: 1.25
Content Type: VideoProvider:
X-linked retinitis pigmentosa (XLRP) is a rare, inherited retinal disease and is the most common form of recessive retinitis pigmentosa (RP). XLRP is commonly caused by mutations in the RP guanosine triphosphate regulator (RPGR) gene, while its phenotype is characterized by early onset, severity, and rapid disease progression. Currently, no therapies are available for the management of XLRP, but novel strategies, including gene therapy, are undergoing clinical evaluation. These developments highlight the need for genetic testing, genetic counseling, and familiarity with ongoing clinical studies for the optimal management of patients with XLRP. In this CME activity, experts in the field review the prevalence, phenotypes, clinical presentation, and workup for a patient presenting with a suspected RP; discuss the importance and applicability of genetic testing for patients with XLRP; as well as evaluate emerging gene therapies for their safety and efficacy in the treatment of patients with XLRP.