June 2017
Volume 58, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2017
Living with Usher’s syndrome Type 1: Development of a disease impact model from qualitative interviews with patients and their parents
Author Affiliations & Notes
  • Andrea PISCOPO
    Sanofi, Chilly-Mazarin, France
    Experis IT, Nanterre, France
    Sanofi, Chilly-Mazarin, France
  • Catherine Brun-Strang
    Sanofi, Chilly-Mazarin, France
  • Ronald BUGGAGE
    Sanofi, Chilly-Mazarin, France
  • Carla Dias Barbosa
    Mapi, Lyon, France
  • Naomi KNOBLE
    Mapi, Boston, Massachusetts, United States
  • Footnotes
    Commercial Relationships   Andrea PISCOPO, Experis IT (E), Sanofi (C); Aude ROBOREL de CLIMENS, Sanofi (E); Catherine Brun-Strang, Sanofi (E); Ronald BUGGAGE, Sanofi (E); Carla Dias Barbosa, Mapi (E), Sanofi (C); Naomi KNOBLE, Mapi (E), Sanofi (C)
  • Footnotes
    Support  Sanofi
Investigative Ophthalmology & Visual Science June 2017, Vol.58, 1355. doi:
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      Andrea PISCOPO, Aude ROBOREL de CLIMENS, Catherine Brun-Strang, Ronald BUGGAGE, Carla Dias Barbosa, Naomi KNOBLE; Living with Usher’s syndrome Type 1: Development of a disease impact model from qualitative interviews with patients and their parents. Invest. Ophthalmol. Vis. Sci. 2017;58(8):1355.

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      © ARVO (1962-2015); The Authors (2016-present)

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Purpose : Usher syndrome (USH) is a rare, autosomal recessive, genetic disorder characterized by moderate to severe deafness and retinitis pigmentosa with or without vestibular dysfunction. USH is classified into 3 subtypes (USH1, USH2 and USH3) in order of decreasing severity of deafness. The experience of living with a syndrome affecting multiple senses is vastly more complex than its medical features, and information regarding its impact on patient quality of life remains limited in the literature. The objective of this qualitative research was to better understand how USH1 affects patients’ daily life.

Methods : Specific interview guides were developed from a literature review and clinical expert interviews. Between June and August 2016, face-to-face interviews were conducted with US and French USH1 patients, and parents of the USH1 children (<18 years). Trained interviewers asked study participants to share their experiences living with the disease, disease impacts on daily life, and how this evolved since their diagnosis. An in-depth qualitative analysis of interview transcripts was performed using the Atlas.TI software. A comprehensive disease impact model was subsequently designed to articulate all concepts reported by USH1 patients and parents. The frequency of all concepts was also calculated by age groups.

Results : We interviewed 18 USH1 patients and 7 parents. Patients’ mean age was 24 years, and mean age at diagnosis was 11 years. The three most commonly reported ocular symptoms were poor night vision (89%), peripheral vision decline (67%), and photosensitivity (56%). Other non-ocular symptoms consisted in balance issues (78%), fatigue (39%), and headaches (28%). The 3 main limitations were driving (61%), playing sports (67%), and bumping against obstacles/people (56%). USH1 patients were also impacted in their social and family life, psychologically and cognitively, and many patients reported experiencing anxiety and fear (61%).

Conclusions : This is the first known study to explore the daily life impact of USH1 from patient and parent perspectives. The study highlights dimensions of patients lives impacted by USH1 to inform clinical work and target potential patient reported outcomes for measurement of efficacy in clinical trials.

This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.


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