Quality of life in patients with CRB1-associated retinal dystrophies: a longitudinal study

Karuntu, J.S.; Nguyen, X.T.A.; Talib, M.; Schooneveld, M.J. van; Wijnholds, J.; Genderen, M.M. van; ... ; Boon, C.J.F. (2023)

Article / Letter to editor

Purpose: To assess the longitudinal vision-related quality of life among patients with CRB1-associated inherited retinal dystrophies.Methods: A longitudinal questionnaire study included 22 patients with pathogenic CRB1 variants. The National Eye Institute Visual Function Questionnaire (39 items, NEI VFQ-39) was applied at baseline, two-year follow-up, and 4-year follow-up. Classical test theory was performed to obtain subdomain scores and in particular 'near activities' and 'total composite' scores. The Rasch analysis based on previous calibrations of the NEI VFQ-25 was applied to create visual functioning and socio-emotional subscales.Results: In total, 22 patients with pathogenic CRB1 variants were included, with a median age of 25.0 years (IQR: 13-31 years) at baseline and mean followup of 4.0 +/- 0.3 years. A significant decline at 4 years was observed for 'near activities' (51.0 +/- 23.8 vs 35.4 +/- 14.7, p = 0.004) and 'total composite' (63.0 +/- 13.1 vs 52.0 +/- 12.1, p = 0.001) subdomain scores. For the Rasch-scaled scores, the 'visual functioning' scale significantly decreased after 4 years (- 0.89 logits; p = 0.012), but not at 4-year follow-up (+0.01 logits; p = 0.975). The 'socio- emotional' scale also showed a significant decline after 2 years (-0.78 logits, p = 0.033) and 4 years (- 0.83 logits, p = 0.021).Conclusion: In the absence of an intervention, a decline in vision-related quality of life is present in patients with pathogenic CRB1 variants at 4-year follow-up. Patient-reported outcome measures should be included in future clinical trials, as they can be a potential indicator of disease progression and treatment efficacy.

• CRB1
• inherited retinal dystrophy
• National Eye Institute Visual Function Questionnaire
• patient-reported outcome measure
• quality of life

• All authors: Karuntu, J.S.; Nguyen, X.T.A.; Talib, M.; Schooneveld, M.J. van; Wijnholds, J.; Genderen, M.M. van; Schalij-Delfos, N.E.; Klaver, C.C.W.; Meester-Smoor, M.A.; Born, L.I. van den; Hoyng, C.B.; Thiadens, A.A.H.J.; Bergen, A.A.; Nispen, R.M.A. van; Boon, C.J.F.
• Date: 2023-09-25
• Journal: Acta Ophthalmologica
• DOI: doi:10.1111/aos.15769
• Link: https://onlinelibrary.wiley.com/doi/10.1111/aos.15769