TY - JOUR
T1 - Quality of life in patients with CRB1-associated retinal dystrophies
T2 - A longitudinal study
AU - Karuntu, Jessica S.
AU - Nguyen, Xuan-Thanh-An
AU - Talib, Mays
AU - van Schooneveld, Mary J.
AU - Wijnholds, Jan
AU - van Genderen, Maria M.
AU - Schalij-Delfos, Nicoline E.
AU - Klaver, Caroline C. W.
AU - Meester-Smoor, Magda A.
AU - van den Born, L. Ingeborgh
AU - Hoyng, Carel B.
AU - Thiadens, Alberta A. H. J.
AU - Bergen, Arthur A.
AU - van Nispen, Ruth M. A.
AU - Boon, Camiel J. F.
N1 - Funding Information: This research was supported by UitZicht (specifically by Algemene Nederlandse Vereniging ter Voorkoming van Blindheid (ANVVB), Landelijke Stichting voor Blinden en Slechtzienden (LSBS), and the Oogfonds), Curing Retinal Blindness Foundation, Stichting Blindenhulp, Bontius Stichting, and Retina Fonds. Their contribution did not affect study design or research conduct. Publisher Copyright: © 2023 The Authors. Acta Ophthalmologica published by John Wiley & Sons Ltd on behalf of Acta Ophthalmologica Scandinavica Foundation.
PY - 2023
Y1 - 2023
N2 - 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 follow-up 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.
AB - 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 follow-up 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.
KW - CRB1
KW - National Eye Institute Visual Function Questionnaire
KW - inherited retinal dystrophy
KW - patient-reported outcome measure
KW - quality of life
UR - http://www.scopus.com/inward/record.url?scp=85173033531&partnerID=8YFLogxK
U2 - https://doi.org/10.1111/aos.15769
DO - https://doi.org/10.1111/aos.15769
M3 - Article
C2 - 37749859
SN - 1755-375X
JO - Acta ophthalmologica
JF - Acta ophthalmologica
ER -