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Jean Philppe Combal, Alexandre Chipot, Erik Holzinger, Moritz Hillgenberg, Moira Roche, Andrea Sargent, Anne Galy, Scott Uretsky; Leber’s Hereditary Optic Neuropathy (LHON): a qualitative study on the experiences and hopes of patients and caregivers. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):508.
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LHON is a rare optic neuropathy predominantly affecting males in their thirties. Currently no approved treatment is available. LHON is characterized by severe, sequential loss of central vision affecting both eyes within 2 months in 50% of the patients and leading to legal blindness, although some peripheral vision is typically maintained. Perceptions of patients and caregivers with ND4 G11778A mutation, related to the diagnostic process, the consequences of the condition on their respective lives and their hopes and expectations around future treatments have not yet been surveyed. The purpose of the present study was to gain a deeper qualitative understanding around these aspects.
A total of 8 face-to-face semi-structured group interviews were conducted in November 2014. Four with patients (n=17;13/4 (M/F)) and 4 with caregivers (n=17) were conducted in each studied country: the USA, the UK, Germany and France.
Patients and caregivers reported a lengthy, worrisome and difficult diagnostic process with unclear etiology and early misdiagnosis. Frequently a neuro-ophthalmologist identified the disease. Both patients and caregivers described LHON as a disabling condition changing their current and future plans as it chronically affects all key dimensions of their respective lives: mood, physical capabilities, relationships, work/studies, finances, and recreational activities. As a result, patients feel frustrated, become heavily dependent in general and to caregivers in particular, while caregivers point out they have to compensate for activities patients can no longer or hardly do.<br /> Improving vision would mean to them restoring at least some of the autonomy and social life patients had before, so that patients would feel less locked-in by the disease, while the psychological and physical burden of caregivers would be alleviated.
The findings highlight that disease awareness and referral pathways require improvement to lead to diagnosis, especially with future clinical trials initiations. Increasing patients and caregivers support would likely decrease disease impact on their lives. Further investigation of specific unmet needs is needed. There is an urgent need for an effective treatment that will improve visual outcomes and decrease dependence.
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