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 - © 2023 The Authors. Acta Ophthalmologica published by John Wiley & Sons Ltd on behalf of Acta Ophthalmologica Scandinavica Foundation.
PY - 2023/9/25
Y1 - 2023/9/25
N2 - PURPOSE: To assess the longitudinal vision-related quality of life among patients with CRB1-associated inherited retinal dystrophies.METHODS: In this longitudinal questionnaire study, 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 in patients with pathogenic CRB1 variants. [Correction added on 20 November 2023, after first online publication: The preceding sentence has been updated in this version.] 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 a CRB1-associated retinal dystrophy were included, […] with a median age of 25.0 years (interquartile range: 13-31 years) at baseline and mean follow-up of 4.0 ± 0.3 years. [Correction added on 20 November 2023, after first online publication: The preceding sentence has been updated in this version.] 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 2 years (-0.89 logits; p = 0.012), but not at 4-year follow-up (+0.01 logits; p = 0.975). [Correction added on 20 November 2023, after first online publication: In the preceding sentence, "…after 4 years…" has been corrected to "…after 2 years…" in this version.] 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: In this longitudinal questionnaire study, 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 in patients with pathogenic CRB1 variants. [Correction added on 20 November 2023, after first online publication: The preceding sentence has been updated in this version.] 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 a CRB1-associated retinal dystrophy were included, […] with a median age of 25.0 years (interquartile range: 13-31 years) at baseline and mean follow-up of 4.0 ± 0.3 years. [Correction added on 20 November 2023, after first online publication: The preceding sentence has been updated in this version.] 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 2 years (-0.89 logits; p = 0.012), but not at 4-year follow-up (+0.01 logits; p = 0.975). [Correction added on 20 November 2023, after first online publication: In the preceding sentence, "…after 4 years…" has been corrected to "…after 2 years…" in this version.] 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 - https://www.mendeley.com/catalogue/7574a9f6-476b-3e77-a262-827c8be54498/
U2 - 10.1111/aos.15769
DO - 10.1111/aos.15769
M3 - Article
C2 - 37749859
SN - 1755-375X
JO - Acta Ophthalmologica
JF - Acta Ophthalmologica
ER -