June 2020
Volume 61, Issue 7
ARVO Annual Meeting Abstract  |   June 2020
Patient and caregiver experiences of functional vision impairment and health-related quality of life limitations associated with hereditary retinitis pigmentosa
Author Affiliations & Notes
  • Christine Kay
    University of Florida, Gainseville, Florida, United States
  • Judit Banhazi
    Novartis Pharma AG, Switzerland
  • Nicola Williamson
    Adelphi Values, United Kingdom
  • Rob Arbuckle
    Adelphi Values, United Kingdom
  • Chloe Tolley
    Adelphi Values, United Kingdom
  • Claudio Spera
    Novartis Pharma AG, Switzerland
  • Jane Green
    Memorial University of Newfoundland, Newfoundland, Canada
  • M Dominik Fischer
    University of Tubingen, Germany
  • Isabelle S Audo
    Sorbonne Universite, INSERM, France
  • Francesco Patalano
    Novartis Pharma AG, Switzerland
  • Daniel Viriato
    Novartis Pharma AG, Switzerland
  • Footnotes
    Commercial Relationships   Christine Kay, Novartis Pharma AG (C); Judit Banhazi, Novartis Pharma AG (E); Nicola Williamson, Adelphi Values (E); Rob Arbuckle, Adelphi Values (E); Chloe Tolley, Adelphi Values (E); Claudio Spera, Novartis Pharma AG (E); Jane Green, Novartis Pharma AG (C); M Dominik Fischer, Novartis Pharma AG (C); Isabelle Audo, Novartis Pharma AG (C); Francesco Patalano, Novartis Pharma AG (E); Daniel Viriato, Novartis Pharma AG (E)
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2020, Vol.61, 1562. doi:
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      Christine Kay, Judit Banhazi, Nicola Williamson, Rob Arbuckle, Chloe Tolley, Claudio Spera, Jane Green, M Dominik Fischer, Isabelle S Audo, Francesco Patalano, Daniel Viriato; Patient and caregiver experiences of functional vision impairment and health-related quality of life limitations associated with hereditary retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 2020;61(7):1562.

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

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Purpose : Retinitis pigmentosa (RP) is the most common hereditary retinal degenerative condition. The associated visual impairment has a significant impact on functional vision and broader health-related quality of life (HRQoL). There is limited evidence on the patient experience of RP. This study aimed to explore experiences of RP from patient and caregiver perspectives.

Methods : Semi-structured qualitative interviews were conducted with 19 participants (16 adults, 1 adolescent, and 1 child-caregiver pair) in the US. All patients had a clinical and genetic diagnosis of RP. The sample included a variety of RP genotypes: RPGR (n=7), EYE (n=3), PRPF31 (n=2), USH2A (n=2), RHO (n=2), and RPE65 (n=2). A thematic analysis of verbatim interview transcripts was performed. The findings informed refinement of a conceptual model of RP and development of RP-specific patient- and observer-reported outcome measures.

Results : Night blindness, problems with peripheral vision, and dark-light adaptation were the most frequently reported visual function symptoms. Severity of limitations varied based on lighting conditions and familiarity with the environment. The resulting impact on functional vision included limitations to mobility and activities of daily living. Visual aids like white cane and low vision assistive devices were used by patients. Participants reported the impact on broader HRQoL domains including emotional, social, financial, and work functioning. Similar concepts were reported by the child-caregiver pair and findings were consistent across different RP genotypes. Novel concepts not previously reported in the literature were identified in the interviews, such as problems with shape recognition, carrying/lifting and various wider HRQoL impact and coping strategies.

Conclusions : This study explored significant visual function symptoms and impact on functional vision and broader HRQoL in RP. The findings were consistent across RP genotypes, suggesting that they can be generalized more broadly to RP. Newly identified concepts highlight the value of qualitative methods to explore in-depth patient experiences of RP. Fit-for-purpose self-reported measures and better understanding of the qualitative experience of RP are important for designing clinical trials and supporting better disease management.

This is a 2020 ARVO Annual Meeting abstract.


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