Living with Leber hereditary optic neuropathy
Research type
Research Study
Full title
An ethnographic study of Leber hereditary optic neuropathy: exploring the experiences and perceptions of children, young adults and their families.
IRAS ID
181649
Contact name
Lydia Harper
Contact email
Sponsor organisation
Cardiff University
Clinicaltrials.gov Identifier
N/A, N/A
Duration of Study in the UK
1 years, 11 months, 30 days
Research summary
Mitochondrial disease is the umbrella term given to a diverse group of diseases which vary in severity and primarily affect organs of the body that require a lot of energy to function efficiently. This research will undertake an ethnographic study (participant observation and semi-structured interviews) over a period of 12 months to uncover the mundane everyday practices of the genetic ophthalmology clinic in order to understand the complex and myriad ways in which knowledge is produced and enacted within the clinical encounter. Undertaking participant observation in the genetic ophthalmology clinic will provide the opportunity to focus on Leber hereditary optic neuropathy (LHON)—the first disease linked to a mitochondrial mutation (mtDNA). LHON is rare inherited eye condition that primarily affects young males in their second and third decade; the average age of onset is 15 years old. The condition characteristically results in bilateral sight loss over a period of 6‒12 weeks from the initial onset. As with other mitochondrial diseases, there is currently no cure for LHON and treatment options to slow the progress of the condition are limited. Qualitative research exploring the organisation and everyday practices of the genetic ophthalmology clinic is absent from the literature. Similarly there has been a dearth of qualitative research undertaken to explore the impact on the lives of children, young adults and their families following a sudden and dramatic loss of sight caused by LHON. This research aims to fill the lacuna in the literature by exploring how the work of the genetic ophthalmology clinic is organised and in doing so will track LHON across multiple sites to understand the aetiology and trajectory of the condition, and uncover the multiple interpretations attributed to the condition by clinicians and families.
REC name
Wales REC 1
REC reference
15/WA/0344
Date of REC Opinion
21 Oct 2015
REC opinion
Further Information Favourable Opinion