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Examining the impact on quality-of-life of those living with inherited optic neuropathies: an updated systematic review.

Alexandra Welten·Hamzah Saad Algodi·Lydia Abraha·Monali S Malvankar-Mehta
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Abstract

BACKGROUND: Inherited optic neuropathies (IONs) cause progressive visual loss and substantially affect quality of life. This updated systematic review aims to synthesize and evaluate evidence on the patient experience of living with IONs, identify currently used assessment tools, and highlight areas for improvement in research and clinical care. METHODS: We systematically searched MEDLINE, EMBASE, PsycINFO, CINAHL, and Scopus for studies on (i) inherited optic neuropathies; (ii) quality of life or health status; (iii) patient-reported outcome measures; and/or (iv) qualitative research. Inclusion was restricted to peer-reviewed studies. Screening, data extraction, and risk of bias assessment were conducted using Covidence. RESULTS: From 1775 unique records, 5 studies met the inclusion criteria. They evaluated quality-of-life outcomes in patients with Leber hereditary optic neuropathy or autosomal-dominant optic neuropathy across 6 countries. Patient-reported outcome measures used included National Eye Institute Visual Functioning Questionnaire-39, National Eye Institute Visual Functioning Questionnaire-25, Short-Form 12 Health Survey, Beck Depression Inventory, and Pittsburgh Sleep Quality Index. Only one study used qualitative interviews to explore the emotional, social, and financial impacts on patients and families. DISCUSSION: This updated systematic review builds upon previous work to further characterize the impact of ION on patients living with these conditions and the tools currently used to assess them. We highlight the need for a multifaceted approach to ION management, combining medical treatment with comprehensive psychosocial support to work toward more patient-centred care and improved quality of life for those living with these challenging conditions.

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HumansQuality of LifeVisual AcuityPatient Reported Outcome MeasuresOptic Atrophy, Hereditary, LeberHealth StatusJournal ArticleSystematic Review

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Alexandra Welten, Hamzah Saad Algodi, Lydia Abraha, Monali S Malvankar-Mehta. 2026-05-27. Examining the impact on quality-of-life of those living with inherited optic neuropathies: an updated systematic review.. https://doi.org/10.1016/j.jcjo.2026.04.010

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