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Understanding the expectations of patients with inherited retinal dystrophies
  1. Ryan Combs1,2,
  2. Georgina Hall2,
  3. Katherine Payne1,
  4. Jo Lowndes3,
  5. Sophie Devery4,
  6. Susan M Downes3,
  7. Anthony T Moore4,
  8. Simon Ramsden2,
  9. Graeme C M Black1,2,
  10. Marion McAllister1,5
  1. 1Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester, UK
  2. 2Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK
  3. 3Oxford Eye Hospital, Oxford University Hospitals NHS Trust, Oxford, UK
  4. 4Moorfields Eye Hospital NHS Foundation Trust, London, UK
  5. 5Cardiff University Institute of Cancer & Genetics, Cardiff, UK
  1. Correspondence to Professor Graeme Black, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester M13 9WL, UK; graeme.black{at}manchester.ac.uk

Abstract

Background UK genetic ophthalmology services for patients with retinal dystrophy (RD) are variable. Little research exists to define service requirements, or expectations, of patients and their families. This study aimed to explore the views and perceived benefits of genetic ophthalmology services among members of families with RD.

Methods Twenty participants with known RD mutations were recruited through UK genetic ophthalmic clinics. Semistructured qualitative interviews explored interviewees’ perceptions of the role of these services. Interviews were transcribed verbatim and analysed using inductive thematic analysis.

Results Interviewees’ expectations and requirements of genetic ophthalmology services were wide-ranging and often perceived to be unmet. Participant expectations were classified in three groups: (1) Medical expectations included obtaining a diagnosis and information about disease/prognosis, genetic risks and research (2) Psychosocial expectations related to participants’ need for support in adjusting to RD (3) Practical expectations included the desire for information about welfare and support.

Conclusions Expectations of RD families for clinical services are complex, encompassing a range of healthcare specialties. Services that align to these expectations will need to reach beyond the diagnostic arena and provide practical and psychosocial support. The identification of measurable outcomes will facilitate future development and evaluation of service delivery models. Many of the expectations identified here map to an existing, previously validated, outcomes framework for clinical genetic services. However, an additional outcome domain, labelled ‘Independence’ was also identified; this could either be specific to vision loss or relate generally to disability caused by genetic conditions.

  • Retina
  • Dystrophy
  • Genetics
  • Treatment other

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