Abstract

Globally over 338 million people live with blindness or moderate to severe vision impairment, and is predicted to double by 2025. Leber hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disorder that causes sudden, severe vision impairment. Onset can occur throughout the lifespan, however it most often occurs during the teen/young adult years in males and young adult/middle age for females. LHON-affected individuals face health-care barriers, financial hardship, and psychosocial challenges. Individuals with LHON vision impairment are at increased risk for unintentional injuries, loneliness, depression, anxiety, and lower quality of life. A non-profit organization supporting LHON patients collaborated with a nurse scientist in an IRB-approved qualitative descriptive study aimed at exploring the lived experience of sudden, profound vision loss. Using purposive sampling, 27 U.S. LHON-affected adults participated in gender-specific virtual focus groups/interviews aiming to understand the patients experience of living with sudden severe vision loss. Data were coded and themes identified: (1) impact of blindness on daily living, (2) impact of sudden, severe vision loss on mental health, and (3) experiences with and perspectives on the health care system. Participants described sudden vision loss as profoundly life-changing, with psychological distress, barriers to care, and loss of independence. Access to resources, rehabilitation, and proactive provider support were essential yet inconsistently delivered. Innovative care coordination is urgently needed for individuals experiencing sudden blindness. A virtual nurse case manager offers a cost-effective solution by bridging critical gaps in patient education, multidisciplinary care, safety assessments, physical and mental health assessments, referrals for training and rehabilitation, and emotional support. Integrating this role into existing nurse case management programs, would centralize LHON-specific expertise, enhance outcome tracking, and reduce specialist overutilization. This role could also monitor emerging trends and inform clinical practice and research efforts.

Notes

References:

Chen, B. S., Yu-Wai-Man, P., & Newman, N. J. (2022). Developments in the Treatment of Leber Hereditary Optic Neuropathy. Current neurology and neuroscience reports, 22(12), 881–892. https://doi.org/10.1007/s11910-022-01246-y

Chen, B. S., Perot, S., Taiel, M., Yu-Wai-Man, P., Horton, M., & LHON Study Group (2025). Rasch analysis of the NEI-VFQ-25: vision-related quality of life in Leber hereditary optic neuropathy after lenadogene nolparvovec gene therapy. BMJ open ophthalmology, 10(1), e002164. https://doi.org/10.1136/bmjophth-2025-002164

Rabenstein, A., Catarino, C. B., Rampeltshammer, V., Schindler, D., Gallenmüller, C., Priglinger, C., Pogarell, O., Rüther, T., & Klopstock, T. (2021). Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber's Hereditary Optic Neuropathy mutation carriers: a prospective cohort study. Orphanet journal of rare diseases, 16(1), 127. https://doi.org/10.1186/s13023-021-01724-5

Vision Loss Expert Group of the Global Burden of Disease Study, & GBD 2019 Blindness and Vision Impairment Collaborators (2024). Global estimates on the number of people blind or visually impaired by cataract: a meta-analysis from 2000 to 2020. Eye (London, England), 38(11), 2156–2172. https://doi.org/10.1038/s41433-024-02961-1

Description

Severe vision impairment impacts millions of people, and is on the rise. A qualitative study of 27 U.S. adults with sudden LHON-related vision loss revealed major impacts on daily life, mental health, and navigation of the health-care system. Participants described distress, barriers to care, and loss of independence. Findings highlight the need for better-coordinated support; a virtual nurse case manager could bridge gaps in education, assessments, rehabilitation, and emotional support.

Authors

Author Details

Amie Koch, DNP, FNP-C, RN, ACHPN, FAANP - Associate Professor, Duke University School of Nursing Durham, NC, USA

Sigma Membership

Beta Epsilon

Type

Presentation

Format Type

Text-based Document

Study Design/Type

Descriptive/Correlational

Research Approach

Qualitative Research

Keywords:

Health Equity or Social Determinants of Health, Stress and Coping, Blindness, Health Outcome Assessments, Nurse Case Management, Medical Case Managment

Conference Name

37th International Nursing Research Congress

Conference Host

Sigma Theta Tau International

Conference Location

Toronto, Ontario, Canada

Conference Year

2026

Rights Holder

All rights reserved by the author(s) and/or publisher(s) listed in this item record unless relinquished in whole or part by a rights notation or a Creative Commons License present in this item record. All permission requests should be directed accordingly and not to the Sigma Repository. All submitting authors or publishers have affirmed that when using material in their work where they do not own copyright, they have obtained permission of the copyright holder prior to submission and the rights holder has been acknowledged as necessary.

Review Type

Abstract Review Only: Reviewed by Event Host

Acquisition

Proxy-submission

Date of Issue

2026-08-24

Click above link to access the slide deck.

Share

COinS
 

Becoming Blind: Innovative Nurse Case Management for Improved Outcomes

Toronto, Ontario, Canada

Globally over 338 million people live with blindness or moderate to severe vision impairment, and is predicted to double by 2025. Leber hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disorder that causes sudden, severe vision impairment. Onset can occur throughout the lifespan, however it most often occurs during the teen/young adult years in males and young adult/middle age for females. LHON-affected individuals face health-care barriers, financial hardship, and psychosocial challenges. Individuals with LHON vision impairment are at increased risk for unintentional injuries, loneliness, depression, anxiety, and lower quality of life. A non-profit organization supporting LHON patients collaborated with a nurse scientist in an IRB-approved qualitative descriptive study aimed at exploring the lived experience of sudden, profound vision loss. Using purposive sampling, 27 U.S. LHON-affected adults participated in gender-specific virtual focus groups/interviews aiming to understand the patients experience of living with sudden severe vision loss. Data were coded and themes identified: (1) impact of blindness on daily living, (2) impact of sudden, severe vision loss on mental health, and (3) experiences with and perspectives on the health care system. Participants described sudden vision loss as profoundly life-changing, with psychological distress, barriers to care, and loss of independence. Access to resources, rehabilitation, and proactive provider support were essential yet inconsistently delivered. Innovative care coordination is urgently needed for individuals experiencing sudden blindness. A virtual nurse case manager offers a cost-effective solution by bridging critical gaps in patient education, multidisciplinary care, safety assessments, physical and mental health assessments, referrals for training and rehabilitation, and emotional support. Integrating this role into existing nurse case management programs, would centralize LHON-specific expertise, enhance outcome tracking, and reduce specialist overutilization. This role could also monitor emerging trends and inform clinical practice and research efforts.