The authors present a qualitative study which aimed to explore the impact of Leber hereditary optic neuropathy (LHON) from diagnosis to present day on both patients and their families. Individuals with LHON and their families were purposively sampled from four countries to participate in market research study. The study was funded by a pharmaceuticals company but was independently conducted. A total of eight focus groups were conducted in person, in the local language, using a semi-structured guide. A total of 17 individuals with LHON and 17 family members took part in the study. Despite recruiting across four countries both patients and family members reported similar experiences. The experience prior to diagnosis included appointments with multiple professionals, with increased time to diagnosis for females and patients without family history. The psychological burden of LHON was outlined from diagnosis and in the post-diagnosis period. Patients had a loss of independence affecting many areas of life, with different mechanisms of dealing with this. Relationships with partners, family and friends were altered by a perceived sense of being a burden. The majority of patients reported a benefit of accessing low vision services to support adaptation to their visual impairment, including the use of accessibility options on devices. The patient requests for the future included being able to return to activities of daily living which they are currently unable to do, including driving, shopping and navigation. The authors outline areas which require improvement for individuals with LHON including timely diagnosis, access to treatment and psychological support. Further research is required specific to these areas of unmet need.
Experiences of patients and their families and the impact of Leber hereditary optic neuropathy
Reviewed by Lauren Hepworth
The impact of Lebers hereditary optic neuropathy on the quality of life of patients and their relatives: A qualitative study.
CONTRIBUTOR
Lauren R Hepworth
University of Liverpool; Honorary Stroke Specialist Clinical Orthoptist, Northern Care Alliance NHS Foundation Trust; St Helen’s and Knowsley NHS Foundation Trust, UK.
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