July 2018
Volume 59, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2018
Natural History of Progression of Choroideremia (NIGHT) Study: Cross-Sectional Analysis of Baseline Characteristics
Author Affiliations & Notes
  • Byron L Lam
    Bascom Palmer Eye Institute, University of Miami, Miami, Florida, United States
  • M Dominik Fischer
    Centre for Ophthalmology, University of Tübingen, Tübingen, Germany
  • Mark E Pennesi
    Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, United States
  • Eeva-Marja Kaarina Sankila
    Department of Ophthalmology, Helsinki University Eye Hospital, Helsinki, Finland
  • Frank G. Holz
    Department of Ophthalmology, University of Bonn, Bonn, Germany
  • Robert E MacLaren
    Nuffield Laboratory of Ophthalmology, University of Oxford, Oxford, United Kingdom
  • David G Birch
    Retina Foundation of the Southwest, Dallas, Texas, United States
  • Ian M MacDonald
    Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Alberta, Canada
  • Carel C B Hoyng
    Department of Ophthalmology, Radboud University Medical Center, Nijmegen, Netherlands
  • Graeme Black
    Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom
  • Neil M Bressler
    Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
  • Stephen H. Tsang
    Department of Ophthalmology and of Pathology and Cell Biology, Columbia University, New York, New York, United States
  • Kimberly E Stepien
    Department of Ophthalmology & Visual Sciences, University of WI-Madison, Madison, Wisconsin, United States
  • Michael S Ip
    Doheny Eye Institute, David Geffen School of Medicine of the University of California-Los Angeles, Los Angeles, California, United States
  • Vedran Pavlovic
    Nightstar Therapeutics, London, United Kingdom
  • Aniz Girach
    Nightstar Therapeutics, London, United Kingdom
  • Footnotes
    Commercial Relationships   Byron Lam, Nightstar Therapeutics (F); M Dominik Fischer, Nightstar Therapeutics (C), Nightstar Therapeutics (F); Mark Pennesi, Nightstar Therapeutics (F); Eeva-Marja Sankila, Nightstar Therapeutics (F); Frank Holz, Nightstar Therapeutics (F); Robert MacLaren, Nightstar Therapeutics (I), Nightstar Therapeutics (C), Nightstar Therapeutics (F); David Birch, Nightstar Therapeutics (F), Nightstar Therapeutics (C); Ian MacDonald, Nightstar (F); Carel Hoyng, Nightstar (F); Graeme Black, Nightstar Therapeutics (F), Nightstar Therapeutics (C); Neil Bressler, Nightstar (F); Stephen Tsang, Nightstar (F); Kimberly Stepien, Nightstar (F); Michael Ip, Nightstar Therapeutics (F), Nightstar Therapeutics (C); Vedran Pavlovic, Nightstar Therapeutics (E), Nightstar Therapeutics (I); Aniz Girach, Nightstar Therapeutics (E)
  • Footnotes
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Investigative Ophthalmology & Visual Science July 2018, Vol.59, 3899. doi:
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    • Get Citation

      Byron L Lam, M Dominik Fischer, Mark E Pennesi, Eeva-Marja Kaarina Sankila, Frank G. Holz, Robert E MacLaren, David G Birch, Ian M MacDonald, Carel C B Hoyng, Graeme Black, Neil M Bressler, Stephen H. Tsang, Kimberly E Stepien, Michael S Ip, Vedran Pavlovic, Aniz Girach; Natural History of Progression of Choroideremia (NIGHT) Study: Cross-Sectional Analysis of Baseline Characteristics. Invest. Ophthalmol. Vis. Sci. 2018;59(9):3899.

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

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Abstract

Purpose : To report baseline characteristics of participants with Choroideremia (CHM) in the NIGHT prospective, multi-center, observational study (NCT03359551); the largest natural history study for CHM.

Methods : Males ≥18 years with a genetic diagnosis of CHM, clinically active disease within the macula, and best-corrected visual acuity (BCVA) better or equal to 20/200 (LogMar 1.0) in at least one eye were enrolled. Imaging data were assessed at a central reading center. Cross-sectional analysis of baseline characteristics is presented. Linear regression models estimated the associations between BCVA and age, and interocular symmetry analyses were performed.

Results : Of 219 patients enrolled to date across 17 sites globally, majority were Caucasian (97%), mean age ± SD of 47 ± 13.2 years. At baseline, BCVA was moderately impaired (63 ± 21.5 ETDRS letters, LogMar 0.5) with a mean sensitivity (MS) on microperimetry of 3.6 ± 4.83 dB. Similarly, the mean areas of preserved autofluorescence (PAF) and ellipsoid zone (PEZ) on SD-OCT were 5.4 ± 6.28 mm2 and 2.4 ± 2.16 mm2, respectively. Linear regression showed BCVA declines slowly with increasing age (average of -0.5 ETDRS letters/yr) although the linear correlation coefficient was low (-0.3). Bilateral asymmetry in BCVA was evident with a mean inter-eye difference of 19 ± 19.2 ETDRS letters (only 28% patients showed ≤5-letter difference), and a low ICC score of 0.23 (Figure 1A and 1B). In contrast, a high degree of bilateral symmetry was observed for MS, PAF and PEZ with high ICC scores of 0.90, 0.92 and 0.86, respectively.

Conclusions : Cross-sectional analysis of baseline characteristics indicates that during late-stage of CHM, when macular involvement is evident, visual acuity becomes asymmetrical due to the irregular pattern of macular atrophy in CHM and thus unpredictable onset of foveal involvement (Figure 1C). These findings have important implications for designs of future CHM interventional trials, whereby use of fellow-eye as a control is appropriate only in early-stage patients, if BCVA is used.

This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.

 

Figure 1. Bilateral symmetry in visual acuity of CHM patients (A)Baseline BCVA: Equality (grey) and orthogonal regression (red) lines. (B)Bland-Altman plot of difference between left and right eyes plotted against their average value. Mean difference (red) ± 2 SD (blue). (C) Preserved autofluorescence in a late-stage CHM patient.

Figure 1. Bilateral symmetry in visual acuity of CHM patients (A)Baseline BCVA: Equality (grey) and orthogonal regression (red) lines. (B)Bland-Altman plot of difference between left and right eyes plotted against their average value. Mean difference (red) ± 2 SD (blue). (C) Preserved autofluorescence in a late-stage CHM patient.

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