June 2017
Volume 58, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2017
Near-Infrared Autofluorescence in Choroideremia: anatomical and functional correlations
Author Affiliations & Notes
  • Anna Paola Salvetti
    Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom
    Oxford Eye Hospital, University of Oxford, Oxford, United Kingdom
  • Johannes Birtel
    Center for Rare Diseases Bonn (ZSEB), University of Bonn, Bonn, Germany
    Department of Ophthalmology, University of Bonn, Bonn, Germany
  • Kanmin Xue
    Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom
    Oxford Eye Hospital, University of Oxford, Oxford, United Kingdom
  • Martin Gliem
    Center for Rare Diseases Bonn (ZSEB), University of Bonn, Bonn, Germany
    Department of Ophthalmology, University of Bonn, Bonn, Germany
  • Philipp Mueller
    Center for Rare Diseases Bonn (ZSEB), University of Bonn, Bonn, Germany
    Department of Ophthalmology, University of Bonn, Bonn, Germany
  • Frank G Holz
    Center for Rare Diseases Bonn (ZSEB), University of Bonn, Bonn, Germany
    Department of Ophthalmology, University of Bonn, Bonn, Germany
  • Robert E MacLaren
    Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom
    Oxford Eye Hospital, University of Oxford, Oxford, United Kingdom
  • Peter Charbel Issa
    Oxford Eye Hospital, University of Oxford, Oxford, United Kingdom
    Center for Rare Diseases Bonn (ZSEB), University of Bonn, Bonn, Germany
  • Footnotes
    Commercial Relationships   Anna Paola Salvetti, None; Johannes Birtel, None; Kanmin Xue, None; Martin Gliem, None; Philipp Mueller, None; Frank Holz, None; Robert MacLaren, None; Peter Charbel Issa, None
  • Footnotes
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Investigative Ophthalmology & Visual Science June 2017, Vol.58, 4852. doi:
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      Anna Paola Salvetti, Johannes Birtel, Kanmin Xue, Martin Gliem, Philipp Mueller, Frank G Holz, Robert E MacLaren, Peter Charbel Issa; Near-Infrared Autofluorescence in Choroideremia: anatomical and functional correlations. Invest. Ophthalmol. Vis. Sci. 2017;58(8):4852.

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

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Abstract

Purpose : To describe features on near-infrared autofluorescence (NIR-AF) imaging in patients with choroideremia (CHM) and to correlate these with findings on blue autofluorescence (B-AF) imaging, retinal structure and visual function.

Methods : All patients underwent best-corrected visual acuity (BCVA), 10-2 microperimetry (Macular Integrity Assessment-MAIA, CenterVue, Padova, Italy) and a full ophthalmic examination. Multimodal retinal imaging with spectral domain optical coherence tomography (SD-OCT), NIR-AF (at 805 nm excitation wavelength) and B-AF (at 488 nm excitation wavelength) was carried out on the Heidelberg Spectralis HRA and HRA II (Heidelberg Engineering, Heidelberg, Germany).

Results : 78 eyes of 39 consecutive patients were included in the study. Three different phenotypes were identified based on NIR-AF imaging. In group 1 (n = 17 eyes), NIR-AF showed preserved foveal surrounded by a granular pattern, which corresponded to the residual retinal pigment epithelium (RPE) visible on B-AF images. In group 2 (n = 16), only the foveal NIR-AF was present. In group 3 (n = 6 patients) the NIR-AF signal from the RPE was absent. The areas of preserved RPE on B-AF images were greater in group 1 compared to group 2 and 3 (p<0.0001), but there was no statistically significant difference between the latter group 2 and 3. No difference in central retinal thickness (mean thickness within the central 1.0 mm ETDRS circle on SD-OCT volume scans) was detected between the three groups. A significant difference in BCVA (p<0.05) was only detected between group 1 (mean 0.16 logMAR, SEM = 0.023) and group 2 (mean 0.29 logMAR, SEM = 0.045), possibly due to the low number of patients in group 3 (mean 0.26 logMAR, SEM = 0.045). Mean central sensitivity on microperimetry testing was significantly higher in group 1 compared to group 3 (p<0.05), but was not significantly different for other inter-group comparisons.

Conclusions : A preserved NIR-AF signal in choroideremia patients is associated with larger areas of intact RPE and with better visual function. NIR-AF may be used as an additional factor for visual prognostication or as an outcome measure in clinical trials such as gene therapy for choroideremia.

This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.

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