Capturing the experiences of patients with inherited optic neuropathies: a systematic review of patient-reported outcome measures (PROMs) and qualitative studies

Abstract

Purpose To identify and comprehensively evaluate studies capturing the experience of individuals affected by an inherited optic neuropathy (ION), focusing on patient-reported outcome measures (PROMs) and qualitative studies where the health status and quality of life (QoL) of these individuals have been explored. Methods Systematic review of five databases using a search strategy combining four concepts: (1) ION; (2) QoL and health status; (3) PROMs; and (4) qualitative research. Studies assessing the impact of ION on any QoL domain using a PROM or qualitative methodology were included and appraised, using criteria based on the COSMIN checklist (for PROM studies) and the CASP checklist (for qualitative studies). Results Of 1326 unique articles identified, six studies were included. Five PROMs were identified: Visual Function Index (VF-14); Hospital Anxiety and Depression Scale (HADS); a novel graphical online assessment tool (NGOAT) for reporting emotional response to vision loss; a new PROM informed by the DSM-V Criteria for Major Depressive Disorder; and an interpersonal and career ‘impact rating’ PROM. The psychometric performance of included PROMs were poorly described. Qualitative studies found that vision loss resulted in psychosocial losses including loss of social and communication skills and loss of independence and freedom. Factors that modified the response to vision loss were also identified. Conclusion The current PROMs used by individuals with ION have poor content coverage, primarily measuring activity limitation and emotional well-being, and insufficient reporting of psychometric performance. There is a need to develop a PROM for individuals ION to report their experiences of living with their condition.

Psychometric Validity of the Visual Function Index in Leber Hereditary Optic Neuropathy

“…Furthermore, the VF-14 only measures vision-related activity limitation and does not specifically address other domains of quality of life that may be important to individuals with LHON. 23 , 24 In this study we have demonstrated that the psychometric properties of the VF-14 can be improved by re-engineering the response categories and removing items that don’t fully contribute towards the total score. Additional studies could be performed to determine the impact of idebenone on vision-related activity limitation using the VF-14R we have proposed.…”

“…However, post-hoc revisions to the VF-14 does not address the content of the PROM, which would require additional items to function as a measure of health-related quality of life. 23 For these reasons, we have not provided equating scales to convert the original VF-14 to the modified VF-14R score.…”