July 2019
Volume 60, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2019
Patient Involvement in Development of Customised Care Plans for Genetically-confirmed Inherited Retinal Degeneration
Author Affiliations & Notes
  • Aoife Mary Long
    Royal College of Surgeons Ireland, Dublin, Ireland
    Mater Misericordiae University Hospital, Dublin, Ireland
  • Kirk Stephenson
    Mater Misericordiae University Hospital, Dublin, Ireland
  • Julia Zhu
    Mater Misericordiae University Hospital, Dublin, Ireland
  • Adrian Dockery
    School of Genetics & Microbiology, Trinity College Dublin, Dublin, Ireland
  • Giuliana Silvestri
    The Research Foundation, Royal Victoria Eye and Ear Hospital, Dublin, Ireland
    Department of Ophthalmology, The Royal Victoria Hospital, Belfast, United Kingdom
  • Paul F Kenna
    School of Genetics & Microbiology, Trinity College Dublin, Dublin, Ireland
    The Research Foundation, Royal Victoria Eye and Ear Hospital, Dublin, Ireland
  • Laura Brady
    Fighting Blindness Foundation, Dublin, Ireland
  • James O'Byrne
    National Centre for Inherited Metabolic Disorders, Mater Misericordiae University Hospital, Dublin, Ireland
  • Jackie Turner
    Rare Disease Office, Mater Misericordiae University Hospital, Dublin, Ireland
  • G. Jane Farrar
    School of Genetics & Microbiology, Trinity College Dublin, Dublin, Ireland
  • David J Keegan
    Mater Misericordiae University Hospital, Dublin, Ireland
  • Footnotes
    Commercial Relationships   Aoife Mary Long, None; Kirk Stephenson, None; Julia Zhu, None; Adrian Dockery, None; Giuliana Silvestri, None; Paul Kenna, None; Laura Brady, None; James O'Byrne, None; Jackie Turner, None; G. Jane Farrar, None; David Keegan, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 2953. doi:
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      Aoife Mary Long, Kirk Stephenson, Julia Zhu, Adrian Dockery, Giuliana Silvestri, Paul F Kenna, Laura Brady, James O'Byrne, Jackie Turner, G. Jane Farrar, David J Keegan; Patient Involvement in Development of Customised Care Plans for Genetically-confirmed Inherited Retinal Degeneration. Invest. Ophthalmol. Vis. Sci. 2019;60(9):2953.

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

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Abstract

Purpose : Inherited Retinal Degenerations (IRD) are a clinically and genetically heterogenous group of disorders requiring tailored management and personalized action plans. There is often a lack of awareness amongst patients and professionals of all the resources, supports and therapies potentially available to them. Desired best practice model is a bespoke care plan which assesses all available data, is disease-specific and is individualised for each person’s requirements.

Methods : Sample care plans were created for USH1B, one of the most commonly detected genotypes from our IRD cohort (Target 5000).
A review of the genotypic result including variant analysis (with geneticist and genetic
counsellor) was conducted along with documentation of phenotype including co-morbidities (by an ophthalmologist). A literature review relevant to phenotype/genotype (geneticist) and best available interventions (including supports by sight loss advisor) was conducted, with a judgement on level of evidence.
An iterative process was followed; multiple drafts were created. This was subject to further review, discussion and change by focus groups comprising patients, patient relatives, advocates, geneticists, genetic counsellors, clinicians and scientists.

Results : A template format was created which provides the phenotype (imaging and functional data with report) and genotype (distinguishing known and unknown variants) following appropriate genetic counselling. The relevant current recognised treatments of the
condition and co-morbidities are highlighted. Where no active treatment is available this is indicated. Supports (co-ordinated by our sight loss advisor) are recommended. A list of the relevant pre-clinical and clinical studies (including trials) are made available.

Conclusions : This format optimises communication. Validation of this care plan format by
ophthalmologists, geneticists and patients affected by IRD has been done. Many
comorbidities can be treated alike from one patient to the next. However, the primary retinal pathology may need to be addressed on an individual basis.
This format can attempt to provide transparent information in an era of overwhelming and often conflicting data.
Care plans for major/common genotypes will be available. Each genotype will be reviewed regularly and relevant trials/ treatments added to care plans as appropriate.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.

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