X-Linked Retinitis Pigmentosa and Gene Therapy: More Than Meets the Eye

Author(s)/Faculty: Yasha Modi, MD; Lejla Vajzovic, MD, FASRS
Release Date: 2/28/2022Expiration Date: 2/27/2023
Credit Type: CME / CME with ABO Continuing Certification Number of Credits: 0.75
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 clinical evaluation of patients presenting with suspected RP, including family history assessment and the use of genetic testing, as well as examine the current evidence regarding the efficacy, safety, and delivery of emerging gene therapy for the treatment of patients with XLRP.