June 2020
Volume 61, Issue 7
Open Access
ARVO Annual Meeting Abstract  |   June 2020
Natural history study of visual function in patients with BBS1 and BBS10-related Bardet-Biedl syndrome.
Author Affiliations & Notes
  • Monika Grudzinska Pechhacker
    Department of Ophthalmology and Visual Sciences, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    St Erik Eye Hospital, Karolinska Institutet, Stockholm, Sweden
  • Samuel G Jacobson
    Scheie Eye Institute, Philadelphia, Pennsylvania, United States
    Department of Ophthalmology, Perelman School of Medicine University of Pennsylvania, Philadelphia, Pennsylvania, United States
  • Ine Strubbe
    Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium
  • Jacque L Duncan
    Department of Ophthalmology, University of California, San Francisco, San Francisco, California, United States
  • Arlene V Drack
    Institute for Vision Research, University of Iowa, Iowa, Iowa, United States
  • Andrea L Vincent
    Ophthalmology, New Zealand National Eye Centre, University of Auckland, Auckland, New Zealand
    Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand
  • Tomas Aleman
    Scheie Eye Institute, Perelman Center for Advanced Medicine, Philadelphia, Pennsylvania, United States
    Center for Advanced Retinal and Ocular Therapeutics and The Children’s Hospital of Philadelphia Perelman School of Medicine, Philadelphia, Pennsylvania, United States
  • Caroline Van Cauwenbergh
    Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium
  • Elfride De Baere
    Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium
  • Helene Dollfus
    Hôpitaux Universitaires de Strasbourg, Strasbourg, France
    INSERM, Université de Strasbourg, Strasbourg, France
  • Nathalie Goetz
    INSERM, Université de Strasbourg, Strasbourg, France
  • Bart Peter Leroy
    Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium
    Division of Ophthalmology & Center for Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, United States
  • Ajoy Vincent
    Department of Ophthalmology and Visual Sciences, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
  • Elise Heon
    Department of Ophthalmology and Visual Sciences, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
  • Footnotes
    Commercial Relationships   Monika Grudzinska Pechhacker, None; Samuel Jacobson, None; Ine Strubbe, None; Jacque Duncan, 4D Therapeutics (C), AGTC (C), Biogen/Nightstar Therapeutics (C), Editas Medicine (C), Eloxx (C), Foundation Fighting Blindness (C), ProQR Therapeutics (C), SparingVision (C), Spark Therapeutics (C), Vedere Bio (C); Arlene Drack, None; Andrea Vincent, None; Tomas Aleman, None; Caroline Van Cauwenbergh, None; Elfride De Baere, None; Helene Dollfus, None; Nathalie Goetz, None; Bart Leroy, None; Ajoy Vincent, Adverum Biotechnologies Inc (C); Elise Heon, Deep Genomics (C), Sanofi (C)
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2020, Vol.61, 4463. doi:
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      Monika Grudzinska Pechhacker, Samuel G Jacobson, Ine Strubbe, Jacque L Duncan, Arlene V Drack, Andrea L Vincent, Tomas Aleman, Caroline Van Cauwenbergh, Elfride De Baere, Helene Dollfus, Nathalie Goetz, Bart Peter Leroy, Ajoy Vincent, Elise Heon; Natural history study of visual function in patients with BBS1 and BBS10-related Bardet-Biedl syndrome.. Invest. Ophthalmol. Vis. Sci. 2020;61(7):4463.

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

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Abstract

Purpose : Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder where all patients have early, progressive photoreceptor degeneration. The natural history of visual function change has not been established. We explored changes in visual function for patients with biallelic mutations in most common BBS genotypes: BBS1 and BBS10.

Methods : Multicenter, retrospective longitudinal chart review of 40 Bardet-Biedl patients with 2 pathogenic variants in BBS1 (n=23) or BBS10 (n=17) genes. Parameters documented included best corrected visual acuity (BCVA), Goldmann perimetry (VF), electroretinography (ERG), full-field stimulus threshold (FST), and systemic phenotype. We used descriptive statistics to summarize observations (mean and range for continuous variables; counts and percentages for categorical variables).

Results : Mean age at first visit was 15.8 years (range 5.3 to 40.2 years), mean age at last visit was 28.6 years (range 8.5 to 47.8 years). Mean follow-up period was 12 years. 86% of all patients had systemic associations. 34 BBS patients had rod-cone dystrophy (n=21, BBS1; n=13 BBS10), 3 cone-rod dystrophy (n=3, BBS1) and 3 had cone dystrophy (n=3, BBS10). ERG was non-detectable in the majority of BBS10 patients by age 18. BBS10 patients with rod-cone dystrophy and BBS1 patients (either rod-cone or cone-rod dystrophy) had similar ocular phenotype: majority were myopic (70%), nyctalopia was present early (85%), however onset of cataract was observed earlier in BBS10 patients. BCVA most rapidly declined in BBS10 patients with rod-cone dystrophy. Similar trend was observed in VF progression over time leading to legal blindness by age 18 (61% of BBS1 patients and 100% of BBS10 patients with rod-cone dystrophy, n=27). FST in a 28 year old patient (BBS10, rod-cone dystrophy) showed residual rod mediated retinal function.

Conclusions : BBS-associated retinal degeneration is early and severe, usually leading to legal blindness by 18 years. Allelic heterogeneity may lead to different scales of severity. Documenting the course of change of visual function should be specific to the genetic subtypes to identify the optimal time of intervention.

This is a 2020 ARVO Annual Meeting abstract.

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