Front Ophthalmol (Lausanne). 2026 Jun 26;6:1776570. doi: 10.3389/fopht.2026.1776570. eCollection 2026.
ABSTRACT
PURPOSE: This study aimed 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.
METHODS: We conducted a single-center study of 506 patients with RP who underwent comprehensive genetic testing through targeted resequencing of 83 known RP-associated genes using next-generation sequencing. Patients were stratified by age at study entry into six groups: <40 years (20-39), 40s (40-49), 50s (50-59), 60s (60-69), 70s (70-79), and ≥80 years. Detection rates of causative genes were calculated and compared across age groups using the Cochran-Armitage trend test. Genetically solved cases included 42 with EYS, 19 with USH2A, 9 with RP1, 14 with RHO, and 7 with RPGR. Clinical data were collected retrospectively. Age at onset was defined as the age when the patient first noticed night blindness, visual field constriction, or decreased best corrected visual acuity. Age at onset was compared across causative genes using an one-way analysis of variance (ANOVA). For pairwise comparisons, the Wilcoxon rank-sum test was applied with Bonferroni correction to adjust for multiple testing.
RESULTS: The mean age of participants was 58.8 years, and our sample included 235 males and 271 females. Case numbers by age group were as follows: <40 years, 58; 40s, 92; 50s, 94; 60s, 125; 70s, 104; and ≥80 years, 33. Detection rates of causative genes declined steadily 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, Cochran-Armitage trend test). In subset analysis, mean onset ages were RPGR (5.2 years), EYS (19.5 years), RHO (24.3 years), RP1 (25.2 years), and USH2A (34.1 years), indicating a significant difference among genes (p < 0.001). Pairwise comparisons showed significantly earlier onset in the RPGR group relative to USH2A (p = 0.004).
CONCLUSIONS: The detection rate of known causative genes of RP was lower in the elderly patients, potentially reflecting factors associated with a late-onset phenotype.
PMID:42434706 | PMC:PMC13349749 | DOI:10.3389/fopht.2026.1776570
