The emergence of gene therapy for retinitis pigmentosa (RP) necessitates the evaluation and refinement of its diagnostic and management pathways. This expert opinion piece aims to identify gaps in the identification and management of patients with RP while proposing potential measures to mitigate these gaps. Insights were gathered from twelve eye care experts, including general ophthalmologists, pediatric ophthalmologists, optometrists, low vision specialists, genetic counselors, inherited retinal disease (IRD) specialists, and vitreoretinal surgeons, all of whom specialize in caring for patients with IRDs. Eleven experts participated in a live discussion, followed by offline input from all twelve, to synthesize the issues patients with RP face in the diagnostic and management process. From a diagnostic standpoint, the discussion identified lack of community recognition of RP signs and varied clinical presentations as barriers to timely and accurate diagnosis. Recommendations include greater education on symptoms and support resources, implementation of comprehensive eye exams for children and young adults, and improved patient engagement. Regarding management, the discussion highlighted delays between diagnosis and specialist referral, and logistical barriers to care. Recommendations include improved patient-provider communication, linking patients with coordinated care teams, promoting awareness of genetic testing and future treatment options, and increasing access to centers of excellence for genetic ophthalmology and low vision services. The current RP care pathway is hampered by lack of symptom recognition, appropriate testing routes, and resources. Addressing these barriers through a multidisciplinary approach is necessary to ensure that patients with RP receive optimal care and support before, during, and after management.
Kimura et al. (Mon,) studied this question.