June 2020
Volume 61, Issue 7
Free
ARVO Annual Meeting Abstract  |   June 2020
The natural history of choroideremia; progressive loss of visual function and retinal structure
Author Affiliations & Notes
  • David G Birch
    Retina Foundation of the Southwest, Dallas, Texas, United States
  • Paul S Bernstein
    Moran Eye Center, University of Utah, Salt Lake City, Utah, United States
  • Ian M MacDonald
    Ophthalmology and Visual Science, University of Alberta, Edmonton, Alberta, Canada
  • Timothy Stout
    Cullen Eye Institute, Baylor College of Medicine, Houston, Texas, United States
  • David S Liao
    Retina-Vitreous Associates, Beverly Hills, California, United States
  • Kirsten G Locke
    Retina Foundation of the Southwest, Dallas, Texas, United States
  • Yi Zhai
    Ophthalmology and Visual Science, University of Alberta, Edmonton, Alberta, Canada
  • Audra K Miller
    Casey Eye Institute, Oregon Health and Science University, Portland, Oregon, United States
  • Jenny Holt
    4D Molecular Therapeutics, Emeryville, California, United States
  • Adia Jackson Leung
    4D Molecular Therapeutics, Emeryville, California, United States
  • Somayeh Honarmand
    4D Molecular Therapeutics, Emeryville, California, United States
  • Paul Jordan
    Pharmaceutical Division, Biostatistics, F. Hoffmann-La Roche Ltd., Basel, Switzerland
  • Ulrich F O Luhmann
    Roche Pharmaceutical Research and Early Development, Translational Medicine Ophthalmology, Roche Innovation Center, Switzerland
  • David H Kirn
    4D Molecular Therapeutics, Emeryville, California, United States
  • Peter J Francis
    4D Molecular Therapeutics, Emeryville, California, United States
  • Footnotes
    Commercial Relationships   David Birch, 4D Molecular Therapeutics (F); Paul Bernstein, 4D Molecular Therapeutics4D Molecular Therapeutics (F); Ian MacDonald, 4D Molecular Therapeutics (F); Timothy Stout, 4D Molecular Therapeutics (F); David Liao, 4D Molecular Therapeutics (F); Kirsten Locke, None; Yi Zhai, None; Audra Miller, None; Jenny Holt, 4D Molecular Therapeutics (E); Adia Leung, 4D Molecular Therapeutics (E); Somayeh Honarmand, 4D Molecular Therapeutics (E); Paul Jordan, Roche Pharmaceuticals (E); Ulrich Luhmann, Roche Pharmaceuticals (E); David Kirn, 4D Molecular Therapeutics (E); Peter Francis, 4D Molecular Therapeutics (E)
  • Footnotes
    Support  EY09076
Investigative Ophthalmology & Visual Science June 2020, Vol.61, 1908. doi:
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    • Get Citation

      David G Birch, Paul S Bernstein, Ian M MacDonald, Timothy Stout, David S Liao, Kirsten G Locke, Yi Zhai, Audra K Miller, Jenny Holt, Adia Jackson Leung, Somayeh Honarmand, Paul Jordan, Ulrich F O Luhmann, David H Kirn, Peter J Francis; The natural history of choroideremia; progressive loss of visual function and retinal structure. Invest. Ophthalmol. Vis. Sci. 2020;61(7):1908.

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

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Abstract

Purpose : Choroideremia (CHM) is an X-linked recessive condition caused by mutations in the CHM gene encoding Rab escort protein-1 (REP1). Initial symptoms include night blindness, which can occur in early childhood, and progressive narrowing of the field of vision followed by eventual blindness. This ongoing study (NCT02994368) evaluated the rate of progression of CHM as measured by visual function tests and anatomical biomarkers.

Methods : 55 male patients, 14-70 years of age, with genetically confirmed CHM were enrolled in a multicenter (5 sites), prospective, observational study. Both eyes were followed in semi-annual assessments. Inclusion criteria included a ≥ 30° kinetic visual field diameter (III4e) and a preserved ellipsoid zone within the central 10°. Measures included full-field electroretinography (ERG), BCVA, static and kinetic perimetry (Octopus 900), SD-OCT and fundus autofluorescence imaging (FAF) with a Heidelberg Spectralis, and a visual function questionnaire (VFQ-25).

Results : Baseline BCVA was 77.9 ± 12.7 ETDRS letters (median=82, range 28-94) and the horizontal EZ width was 3.11 ± 1.99 mm (median = 2.78, range 3.58-8.97). Results were analyzed from 44 (80%) patients who completed at least 12-months of follow-up as of 31 Oct 2019. BCVA showed no significant change. Consistent with results reported last year from a single site, EZ width showed significant disease progression over 12 months (p<0.01), as did the area of preserved autofluorescence (p<0.001). Visual fields (kinetic perimetry) showed significant progression over 12 months for all isopters: V4e, III4e, and I4e (all p<0.05).

Conclusions : Although variability was observed in rates of progression for individual patients, a significant disease progression over 12 months could be established for EZ width, the area of preserved autofluorescence and, interestingly, for all isopters measured by full-field semi-automated kinetic perimetry. The rate of decline of visual field measured by kinetic perimetry may be an attractive functional endpoint for future interventional treatment trials.

This is a 2020 ARVO Annual Meeting abstract.

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