July 2019
Volume 60, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2019
Correlation of distinct fundus autofluorescence features with disruption of the overlying ellipsoid zone in choroideremia
Author Affiliations & Notes
  • Marta Stevanovic
    Nuffield Laboratory of Ophthalmology, University of Oxford, United Kingdom
    Oxford Eye Hospital, University of Oxford, United Kingdom
  • Jasmina Cehajic Kapetanovic
    Nuffield Laboratory of Ophthalmology, University of Oxford, United Kingdom
    Oxford Eye Hospital, University of Oxford, United Kingdom
  • Jasleen Kaur Jolly
    Nuffield Laboratory of Ophthalmology, University of Oxford, United Kingdom
    Oxford Eye Hospital, University of Oxford, United Kingdom
  • Robert E MacLaren
    Nuffield Laboratory of Ophthalmology, University of Oxford, United Kingdom
    Oxford Eye Hospital, University of Oxford, United Kingdom
  • Footnotes
    Commercial Relationships   Marta Stevanovic, None; Jasmina Cehajic Kapetanovic, None; Jasleen Jolly, None; Robert MacLaren, Nightstar Therapeutics Inc (F), Nightstar Therapeutics Inc (P), Nightstar Therapeutics Inc (I), Nightstar Therapeutics Inc (C)
  • Footnotes
    Support  Foundation Fighting Blindness and Howard Hughes Medical Institute
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 1856. doi:https://doi.org/
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Marta Stevanovic, Jasmina Cehajic Kapetanovic, Jasleen Kaur Jolly, Robert E MacLaren; Correlation of distinct fundus autofluorescence features with disruption of the overlying ellipsoid zone in choroideremia. Invest. Ophthalmol. Vis. Sci. 2019;60(9):1856. doi: https://doi.org/.

      Download citation file:


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

      ×
  • Supplements
Abstract

Purpose : Choroideremia is an X-linked retinal disease that is driven by retinal pigment epithelium (RPE) loss, which leads to secondary degeneration of other retinal layers. In some choroideremia patients, the RPE adopts distinct phenotypes seen on fundus autofluorescence (FAF) – either a mottled appearance seen more peripherally or a smooth appearance around the fovea. Although retinal function is maintained over both areas, it is not yet known how these RPE changes predict the health of the overlying retina.

Methods : A retrospective review of anonymized FAF and optical coherence tomography (OCT) images (Heidelberg Spectralis, Heidelberg, Germany) from the left and right eyes of 20 choroideremia patients was performed. Only FAF images that contained the two distinct regions in both eyes, smooth and mottled, were included. Corresponding FAF and OCT images were then aligned and one horizontal trans-foveal OCT section was analyzed. The length of each smooth and mottled region was measured. Within each region, the percent covered by intact and disrupted ellipsoid zone (EZ) was determined. Intact EZ was defined as being homogenous with uniform thickness and no gaps or eruptions. 2-way ANOVA analysis was performed testing mottled versus smooth zones against percent intact versus disrupted EZ and in left and right eyes.

Results : 14 out of 20 patients had distinct smooth and mottled areas in both eyes and were included in the analysis. On average, 62.5±10.1% of the EZ in each smooth region of the right eyes was intact compared to 10.0±4.3% in the mottled areas. The same trend was observed in left eyes, where 76.5±7.2% of total EZ in the smooth regions was intact versus only 9.8±3.9% in the mottled areas (2-way ANOVA, p<0.0001). Hence the mottled FAF regions seen in choroideremia were associated with early EZ disruption far more so than the smooth areas.

Conclusions : The results of this study confirm that the RPE changes observed in choroideremia correlate with the health of the overlying photoreceptors. The smooth region of FAF is likely to represent early stages of choroideremia with most of the area containing preserved EZ, whereas the mottled zone indicates more advanced stages of the disease and has mostly disrupted EZ. Because of the clear relationship between FAF findings and EZ, FAF imaging can be used to identify areas of preserved EZ that could be rescued by gene therapy.

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

×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×