Evaluation of Impact of Disease and Visual Disability on Quality of Life and Loss of Independence of Patients Living in France With Leber's Hereditary Optic Neuropathy (LHON) Through Qualitative and Quantitative Data Collection
Condition: Leber's Hereditary Optic Neuropathy (LHON)
MeSH terms: Peripheral Nervous System Diseases; Optic Nerve Diseases; Optic Atrophy, Hereditary, Leber
Study type: Observational

Summary: 
      Leber's hereditary optic neuropathy (LHON) is a rare mitochondrial genetic disorder
      characterized by optic nerve atrophy due to the degeneration of retinal ganglion cells, which
      leads to acute visual loss.

      Males are more likely to develop optic neuropathy than women. They experience blurring or
      clouding of vision in one eye. The fellow eye develops similar symptoms sequentially with a
      delay of weeks.

      This sudden vision loss has devastating consequences on the life course of young men, with
      the impact of LHON on their quality of life and loss of independence.

      Yet, data describing the impacts of LHON on the life-course of patients is lacking, with very
      little data available in the literature.

      This study aims to understand the life of patients living with LHON disease through the
      analysis of the impact of LHON on the quality of life and loss of independence of patients
      living in France and to accurately describe the consequences of the disease on their social,
      familial and professional life.
    

Detailed description: 
      The protocol presents a retrospective study. Patients living in France with LOHN shall be
      informed about it and offered to enroll through patients' associations or experts involved.
      As part of the consent process, participants should be informed of the nature of the study
      and the objectives and that the replies would remain confidential and anonymous.

      After a brief screening, the study divides into two parts: one aiming at collecting
      quantitative data through 3 standard quality of life questionnaires, and one survey specially
      written for this study (sample of 25 patients, duration 2 hours). The second is a qualitative
      interview to deep dive into their personal, social, familial, and professional life (10
      patients, duration is 50 minutes). The study contains the detailed sections:

        -  Screening

        -  A survey specially designed for the study

        -  Quality of life through EQ-5D-5L

        -  Quality of life through NEI VFQ- 25, specific for patients suffering from glaucoma

        -  Quality of life through ARAMAV questionnaire specific for visually impaired people

        -  An in-depth qualitative interview, specially designed to fit the requirements of the
           study
    

Observational model: Case-Only
Time perspective: Retrospective
Sampling method: Non-Probability Sample
Study population: 
        Adults living in France diagnosed with Leber's hereditary optic neuropathy (LHON) for more
        than twelve months and less than five years
      
Keywords: Leber's hereditary optic neuropathy (LHON), quality of life, loss of independence, social life, family, socio-professional, France