Abstract
Purpose :
Vision loss is a prominent feature of neuronal ceroid lipofuscinosis Type 2 (CLN2) Batten disease, yet cognitive, motor, and language impairments limit reliable measurement of visual acuity (VA), functional vision and quality of life assessment using standard methods. In order to establish additional outcome measures in this cohort, we assessed the pediatric Eye Questionnaire (PedEyeQ) among CLN2 caregivers.
Methods :
Cross sectional cohort study assessing a modified PedEyeQ consisting of a twenty-two items questionnaire involving four major domains (functional vision; impact on parent and family; worry about child`s eye condition; worry about functional vision). The total score of the questionnaire was correlated with age and the central retinal thickness (CRT) assessed by optical coherence tomography (OCT).
In order to evaluate the importance of all four domain subscores, we correlated each domain subscore with CRT.
Auch PL korrellieren?
Bei Fragebögen muss doch immer Validität überprüft werden oder?
Results :
20 caregivers of twenty genetically verified CLN2 patients were interviewed with a modified PedEyeQ. A significant positive correlation was observed between the total PedEyeQ score and age (p = 0.492) as well as CRT (p = 0.741). In particularly, the functional vision domain correlated significantly (p = 0.758) with CRT.
Conclusions :
The modified PedEyeQ score resembles a valuable exploratory outcome measure to assess quality of life and functional vision in otherwise uncooperative patients with CLN2 disease. We advocate the utility and the exploration of the modified PedEyeQ in all subtypes of neuronal ceroid lipofuscinoses.
This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.