To investigate how age affects the genetic and clinical characteristics of retinitis pigmentosa (RP), focusing on the detectability of causative genes and the age at disease onset.
Approach:
Study Design: A single-center retrospective cross-sectional study of 506 RP patients was conducted, utilizing targeted resequencing of 83 known RP-associated genes.
Patient Stratification: Patients were stratified by age at study entry into six groups: <40 years, 40s, 50s, 60s, 70s, and ≥80 years.
Statistical Analysis: Detection rates of causative genes were compared across age groups using the Cochran-Armitage trend test, and age at onset was analyzed using ANOVA.
Key Findings:
Detection rates of causative genes declined with age: 39.7% (<40), 41.3% (40s), 36.2% (50s), 27.2% (60s), 19.2% (70s), and 3.0% (≥80), showing a statistically significant trend (p = 8.22 × 10-7).
