July 2019
Volume 60, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2019
Natural History of the Progression of RPGR-Associated X-Linked Retinitis Pigmentosa (XOLARIS) Study: Cross-Sectional Analysis of Baseline Characteristics
Author Affiliations & Notes
  • Moreno Menghini
    Nuffield Laboratory of Ophthalmology, University of Oxford, Oxford, United Kingdom
    Oxford Eye Hospital, Oxford, United Kingdom
  • David G Birch
    Retina Foundation of the Southwest, Dallas, Texas, United States
  • Camiel Boon
    Ophthalmology, Leiden University Medical Center, Leiden, Netherlands
    Ophthalmology, Academic Medical Center, Amsterdam University Medical Centers, Amsterdam, Netherlands
  • Jacque L Duncan
    Ophthalmology, University of California San Francisco, San Francisco, California, United States
  • M Dominik Fischer
    STZ Eye Trial am Department für Augenheilkunde, Universitatsklinikum der Eberhard Karls Universitat Tübingen, Tübingen, Germany
  • Frank G Holz
    University Eye Clinic Bonn, Bonn, Germany
  • Carel C B Hoyng
    Ophthalmology and Human Genetics, Radboud University Medical Center, Nijmengen, Netherlands
  • Kamron N Khan
    Leeds Teaching Hospitals NHS Trust, St James's Hospital , Leeds, United Kingdom
  • Isabelle Anne Meunier
    Service d’Ophtalmologie centre de références maladies rares, CHU Montpellier, Montpellier, France
  • Mark E Pennesi
    Casey Eye Institute, Oregon Health and Science University, Portland, Oregon, United States
  • Eeva-Marja Kaarina Sankila
    Eye Clinic, Helsinki University Central Hospital, Helsinki, Finland
  • Robert E MacLaren
    Nuffield Laboratory of Ophthalmology, University of Oxford, Oxford, United Kingdom
    Oxford Eye Hospital, Oxford, United Kingdom
  • Footnotes
    Commercial Relationships   Moreno Menghini, Nightstar therapeutics (F), Nightstar therapeutics (I); David Birch, Applied Genetics Technology (C), Nightstar therapeutics (F), Nightstar therapeutics (C); Camiel Boon, Nightstar therapeutics (F); Jacque Duncan, Applied Genetics Technology (C), Nightstar therapeutics (F); M Dominik Fischer, Nightstar therapeutics (F), Nightstar therapeutics (C), Nightstar therapeutics (P), Nightstar therapeutics (I); Frank Holz, Nightstar therapeutics (F); Carel Hoyng, Nightstar therapeutics (F); Kamron Khan, Nightstar therapeutics (F); Isabelle Meunier, Nightstar therapeutics (F); Mark Pennesi, Nightstar therapeutics (F), Nightstar therapeutics (C); Eeva-Marja Sankila, Nightstar therapeutics (F); Robert MacLaren, Nightstar therapeutics (F), Nightstar therapeutics (I), Nightstar therapeutics (C), Nightstar therapeutics (P)
  • Footnotes
    Support  Nightstar therapeutics
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 5168. doi:https://doi.org/
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      Moreno Menghini, David G Birch, Camiel Boon, Jacque L Duncan, M Dominik Fischer, Frank G Holz, Carel C B Hoyng, Kamron N Khan, Isabelle Anne Meunier, Mark E Pennesi, Eeva-Marja Kaarina Sankila, Robert E MacLaren; Natural History of the Progression of RPGR-Associated X-Linked Retinitis Pigmentosa (XOLARIS) Study: Cross-Sectional Analysis of Baseline Characteristics. Invest. Ophthalmol. Vis. Sci. 2019;60(9):5168. doi: https://doi.org/.

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

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Abstract

Purpose : The objective of the XOLARIS study is to gain a better understanding of disease progression over time in male subjects with RPGR-associated X-linked retinitis pigmentosa (XLRP). Here we present baseline characteristics and correlations among potential endpoints within the available time frame.

Methods : This is a multicenter, prospective, international, observational study consisting of 7 visits over a 24 months period. Subjects must be males, ≥16 years of age, with XLRP and genetically confirmed pathogenic mutations in the RPGRgene. In at least 1 eye, active disease must be clinically visible within the macular region, determined through assessment of compromised ellipsoid zone by spectral domain optical coherence tomography (SD-OCT), and best-corrected visual acuity (BCVA) must be ≥34 letters using the Early Treatment of Diabetic Retinopathy Study (ETDRS) scale. Clinical measures include BCVA, low-luminance visual acuity, MAIA microperimetry, visual field; lens opacity grading, SD-OCT, autofluorescence, fundus photography, color vision, and the 25-item visual function questionnaire.

Results : This study is ongoing, with 53 subjects (47 white, 3 other race, 2 Asian, 1 black) currently enrolled. Of the defined RPGRmutations, the majority are exon (n=20)and ORF15(n=19). The mean age is 30.3±11.9 years (range 16–84). The data for both eyes are presented for ophthalmic outcomes. BCVA at baseline was 65.9±12.7 ETDRS letters (median = 67; range 0-91). The mean central ellipsoid area (EZ area) was 1.2±2.0 mm2(median = 0.5; range 0–10.3). The central horizontal ellipsoid width (EZ width) was 975±909 microns (median = 752; range 0–4170). Microperimetry (mean retinal sensitivity in 68 loci) was 4.9±4.7 decibels (median 3.5; range 0–21).

Conclusions : Wide variability is observed in XLRP patients, largely as a function of age and duration of disease, and disease severity. Understanding the baseline characteristics of this rare disease in a large cohort will allow us to define its progression and the precise measures and endpoints that may be modifiable with intervention.

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

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