Patient-Reported Social Impact of Molecularly Confirmed Retinitis Pigmentosa

Abstract

Objectives: To evaluate the patient-reported impact of retinitis pigmentosa (RP) in a large patient cohort to identify relevant disease-related disadvantages as key aspects for the improvement of ophthalmic and social care. Methods: Consecutive patients with molecularly confirmed RP older than 18 years of age were identified in two tertiary care centers in Germany. Patients were contacted to participate in an anonymized patient query regarding the impact of RP on their vocational training, professional career, and social, familial, and personal life, as well as their experience with ophthalmologic care. Results: Out of 241 contacted patients, 162 responded (67.2%; 52.5% female, 67.3% younger than 50 years of age). While the impact of RP on vocational training was limited, professional careers were frequently disrupted with early retirement rates of 39.8% (≥40 years of age) to 50% (≥50 years of age). Most respondents felt restricted in their participation in public life (66.3%). One-fifth complained about financial restrictions; however, one-third of this number did not obtain financial help. A negative impact on familial life (21.4%) was less frequently reported compared to personal impairments, especially anxiety (74.5%) and depression (24.2%). Most respondents considered their ophthalmic care as adequate; however, a delayed diagnosis (≥two years: 28.6%) and initial misdiagnosis (24.0%) were frequent. Insufficient psychological support was the major complaint about professional care. Conclusions: RP affects the lives of patients in multiple aspects. Ophthalmic and social care providers should focus on the acceleration of the diagnostic process, as well as easy access to financial assistance and psychological support, as key areas for improvement. Improvements in these areas are expected to reduce challenges for patients. They should have an impact on rehabilitation, participation in public life, and quality of life.

Keywords: anxiety; financial burden; ophthalmologic care; patient-reported impact; quality of life; retinitis pigmentosa; social care.