June 2021
Volume 62, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2021
Qualitative exploration of patient and caregiver experiences of visual function impairments and impacts on vision-dependent activities of daily living and health-related quality of life associated with Retinitis Pigmentosa and Leber Congenital Amaurosis in Germany and France
Author Affiliations & Notes
  • Isabelle Audo
    Sorbonne Université, INSERM, CNRS, Institut de la Vision, CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC1423, Paris, France
  • Nicola Williamson
    Adelphi Mill, Bollington, Cheshire, SK10 5JB, United Kingdom
  • Helena Bradley
    Adelphi Mill, Bollington, Cheshire, SK10 5JB, United Kingdom
  • Melissa Barclay
    Adelphi Mill, Bollington, Cheshire, SK10 5JB, United Kingdom
  • Joel Sims
    Adelphi Mill, Bollington, Cheshire, SK10 5JB, United Kingdom
  • Rob Arbuckle
    Adelphi Mill, Bollington, Cheshire, SK10 5JB, United Kingdom
  • Francesco Patalano
    Novartis Pharma AG, Basel, Switzerland
  • Claudio Spera
    Novartis Pharma AG, Basel, Switzerland
  • Christel Naujoks
    Novartis Pharma AG, Basel, Switzerland
  • Nuzhat Afroz
    Novartis NBS, Hyderabad, India
  • M Dominik Fischer
    Nuffield Laboratory of Ophthalmology, NDCN, University of Oxford, Oxford, United Kingdom
    Oxford Eye Hospital, Oxford University NHS Foundation Trust, Oxford, United Kingdom
  • Todd Durham
    Foundation Fighting Blindness, Columbia, Maryland, United States
  • Judit Banhazi
    Novartis Pharma AG, Basel, Switzerland
  • Footnotes
    Commercial Relationships   Isabelle Audo, Adelphi Values (C), Novartis (F), Novartis, Sparing Vision, Biogen (C); Nicola Williamson, Adelphi Values (E); Helena Bradley, Adelphi Values (E); Melissa Barclay, Adelphi Values (E); Joel Sims, Adelphi Values (E); Rob Arbuckle, Adelphi Values (E); Francesco Patalano, Novartis Pharma AG (E); Claudio Spera, Novartis Pharma AG (E); Christel Naujoks, Novartis Pharma AG (E); Nuzhat Afroz, Novartis Pharma AG (E); M Dominik Fischer, Adelphi Values (C), Advent France Biotechnology, Alphasights, Atheneum, Axiom Healthcare Strategies, Biogen, Decision Resources, Dialectica, Frontera Therapeutics, Janssen Research & Development, Navigant, Novartis, Roche, Sirion, STZ eyetrial (C), Novartis (F); Todd Durham, Novartis Pharma AG (F); Judit Banhazi, Novartis Pharma AG (E)
  • Footnotes
    Support  Novartis Pharma AG
Investigative Ophthalmology & Visual Science June 2021, Vol.62, 3585. doi:
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      Isabelle Audo, Nicola Williamson, Helena Bradley, Melissa Barclay, Joel Sims, Rob Arbuckle, Francesco Patalano, Claudio Spera, Christel Naujoks, Nuzhat Afroz, M Dominik Fischer, Todd Durham, Judit Banhazi; Qualitative exploration of patient and caregiver experiences of visual function impairments and impacts on vision-dependent activities of daily living and health-related quality of life associated with Retinitis Pigmentosa and Leber Congenital Amaurosis in Germany and France. Invest. Ophthalmol. Vis. Sci. 2021;62(8):3585.

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

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Abstract

Purpose : Retinitis Pigmentosa (RP) and Leber Congenital Amaurosis (LCA) are rare inherited retinal degenerative disorders (IRD). Visual impairments associated with these disorders have significant impacts on patients’ vision-dependent activities of daily living (ADL) and broader health-related quality of life (HRQoL). There is a paucity of evidence exploring the patient experience of RP/LCA and how these impairments impact on patients’ lives across different genotypes in Europe. This study aimed to explore the experience of RP/LCA from patient and caregiver perspectives, across different genotypes and ages in Germany and France.

Methods : Thirty semi-structured qualitative concept elicitation interviews were conducted with 9 adults, 5 adolescents, 5 children, and 11 caregivers of children aged 3-11 years in Germany and France. All patients had a clinical and genetic diagnosis of RP/LCA. The sample included different gene mutations linked to RP/LCA: RPE65 (n=11), RPGR (n=5), CEP290 (n=3), AIPL1 (n=2), LRAT, PDE6B, RDH12 and RP2 (n=1 each). Thematic analysis of verbatim interview transcripts was performed.

Results : There was consistency across age groups and RP/LCA genotypes in terms of the most relevant concepts. Night blindness, peripheral vision and contrast sensitivity limitations were the most frequently reported visual function symptoms. Severity of impairments depended on lighting conditions and familiarity of environment. Proximal vision-dependent impacts included limitations to mobility and ADLs. Visual aids used included a white cane and assistive devices. Participants reported impacts on broader HRQoL domains, most commonly emotional well-being, social and work/school functioning. Similar concepts were reported by caregivers of children with RP/LCA.

Conclusions : Visual function symptoms and impacts on vision-dependent ADLs and HRQoL reported by participants were consistent across age groups and genotypes, suggesting the same measures may be appropriate for use in all RP/LCA types. Findings increase the understanding of the qualitative experience of RP/LCA and supported the development of fit-for-purpose patient- and observer-reported outcome measures for use in RP/LCA clinical trials.

This is a 2021 ARVO Annual Meeting abstract.

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