Patient perspectives on gaps in care for vision loss due to Leber hereditary optic neuropathy: A qualitative study

• Leber hereditary optic neuropathy is often initially misdiagnosed. • Provider differential for rare disease should include patient self-labeling. • Sudden vision loss requires focused professional and community disability support. • Patients with blindness due to rare disease need empathetic support from providers. Sudden, severe vision loss impacts all aspects of a patient’s life and well-being. Individuals experiencing severe vision loss from Leber Hereditary Optic Neuropathy (LHON), a rare genetic disease, undergo extensive testing and often are treated for one or more misdiagnoses before receiving an accurate diagnosis, thus delaying their ability to explore needed resources and obtain timely support. The purpose was to investigate the diagnostic process of LHON after experiencing sudden severe central vision loss and how health care providers can modify the process to improve the experience for future patients. The focus of this qualitative descriptive study concentrated on participants’ LHON diagnostic process and early interaction with health care systems, and participants’ perspectives on how the diagnostic process could have been improved. Nine female and 18 male adults in the United States who experienced sudden severe vision loss from LHON participated in this study. Focus groups and interviews conducted, coded and the data analyzed resulting in eight themes. Participants highlighted a wide spectrum of experiences with providers, ranging from receiving validation and support to encountering skepticism, fragmented care, and emotionally dismissive responses. In addition to emphasizing the need for updated education to increase provider awareness and recognition of LHON, participants recommended that providers respond seriously to self-reported diagnoses, offer psychological guidance and holistic care throughout the diagnostic journey, and provide post-diagnosis follow-ups to support adjustment to the disability of blindness. Future research should evaluate the scalability and long-term impact of embedding vision support specialists in clinics or insurance companies caring for individuals with rare or genetic causes of sudden vision loss.