Abstract
PurposeTo 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.MethodsSystematic 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).ResultsOf 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.ConclusionThe 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.
Highlights
Inherited optic neuropathies (IONs) constitute a genetically and clinically heterogeneous group of rare disorders that result in progressive optic nerve degeneration and irreversible visual loss [1, 2]
This systematic review identified six studies capturing the experiences of individuals with ION, using five patient-reported outcome measures (PROMs): two pre-existing PROMs not developed for use with individuals with ION per se (VF-14 and Hospital Anxiety and Depression Scale (HADS)) and three new measures for use by individuals affected by Leber hereditary optic neuropathy (LHON) (NGOAT for assessing emotional response to vision loss, a measure based on the DSM-V criteria for Major Depressive Disorder (MDD), and an interpersonal interactions and career goals ‘impact rating’)
Many participants reported symptoms of anxiety and depression, with some individuals affected by LHON satisfying DSM-V criteria for major depression
Summary
Inherited optic neuropathies (IONs) constitute a genetically and clinically heterogeneous group of rare disorders that result in progressive optic nerve degeneration and irreversible visual loss [1, 2]. Autosomal dominant optic atrophy (DOA) and Leber hereditary optic neuropathy (LHON) are the two most common IONs encountered in clinical practice, with an estimated population prevalence of 4–10 per 100,000 individuals and 2–3 per 100,000 individuals, respectively [2]. The pathological hallmark of IONs is the preferential loss of retinal ganglion cells, which results in a central pattern of visual loss. Individuals with DOA usually become symptomatic in early childhood, whereas LHON typically presents between the ages of 15 and 35 years old with rapidly progressive visual loss. There are currently no approved diseasemodifying treatments available to halt or reverse the loss of retinal ganglion cells. Treatment of IONs is focused on symptom management, genetic counselling, and supporting affected individuals to adapt to low vision through the provision of vision aids and occupational therapy
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