Retinitis Pigmentosa: Practicalities, Patient Workup, and the Promise of Gene Therapy

Author(s)/Faculty: Mark Pennesi, MD, PhD, FARVO; Christine Nichols Kay, MD; Syed M. Shah, MD, FACS
Release Date: 9/2/2022Expiration Date: 9/1/2023
Credit Type: CMENumber of Credits: 1.25
Content Type: LectureProvider:
X-linked retinitis pigmentosa (XLRP) is a rare, inherited retinal disease that leads to gradual vision loss in boys and young men. Patients usually present with early-onset night blindness followed by a gradual loss of peripheral vision—with most becoming legally blind by the age of 40. An extensive workup of patients with suspected retinitis pigmentosa (RP) is imperative for an accurate diagnosis, while genetic testing offers a valuable tool to confirm the clinical diagnosis, identify genetic mutations, and determine potential clinical trials for patient enrollment. Currently there are no therapies available for the management of XLRP, but novel strategies such as gene therapy are being assessed in clinical studies and have demonstrated promising efficacy and safety, as well as the potential to alter the course of natural disease progression. In this continuing medical education activity, experts in the field review the broad spectrum of genetic and phenotypic heterogeneity associated with RP, evaluate assessment tools along with genetic counseling and referral to specialized clinics to improve the workup and management of individuals suspected to have inherited retinal diseases, as well as assess new evidence regarding the use of gene therapy in the treatment of patients with X-linked retinitis pigmentosa.