June 2023
Volume 64, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2023
Retinal vascular reactivity in carriers of X-linked inherited retinal disease – a study using optical coherence tomography angiography
Author Affiliations & Notes
  • Sena Ayse Gocuk
    Centre for Eye Research Australia Ltd, East Melbourne, Victoria, Australia
    Optometry and Vision Sciences, The University of Melbourne, Melbourne, Victoria, Australia
  • Xavier Hadoux
    Centre for Eye Research Australia Ltd, East Melbourne, Victoria, Australia
    Surgery (Ophthalmology), The University of Melbourne, Melbourne, Victoria, Australia
  • Charmaine Catipon
    Centre for Eye Research Australia Ltd, East Melbourne, Victoria, Australia
  • Elise Cichello
    Centre for Eye Research Australia Ltd, East Melbourne, Victoria, Australia
  • Himeesh Kumar
    Centre for Eye Research Australia Ltd, East Melbourne, Victoria, Australia
    Surgery (Ophthalmology), The University of Melbourne, Melbourne, Victoria, Australia
  • Jasleen Kaur Jolly
    Vision and Eye Research Institute, Anglia Ruskin University, Chelmsford, Essex, United Kingdom
  • Peter van Wijngaarden
    Centre for Eye Research Australia Ltd, East Melbourne, Victoria, Australia
    Surgery (Ophthalmology), The University of Melbourne, Melbourne, Victoria, Australia
  • Thomas Edwards
    Centre for Eye Research Australia Ltd, East Melbourne, Victoria, Australia
    Surgery (Ophthalmology), The University of Melbourne, Melbourne, Victoria, Australia
  • Lauren N. Ayton
    Centre for Eye Research Australia Ltd, East Melbourne, Victoria, Australia
    Optometry and Vision Sciences, The University of Melbourne, Melbourne, Victoria, Australia
  • David Cordeiro Sousa
    Centre for Eye Research Australia Ltd, East Melbourne, Victoria, Australia
    Surgery (Ophthalmology), The University of Melbourne, Melbourne, Victoria, Australia
  • Footnotes
    Commercial Relationships   Sena Gocuk The University of Melbourne , Code R (Recipient), Choroideremia Research Foundation, Code R (Recipient); Xavier Hadoux None; Charmaine Catipon None; Elise Cichello None; Himeesh Kumar None; Jasleen Jolly Choroideremia Research Foundation, Code S (non-remunerative); Peter van Wijngaarden None; Thomas Edwards None; Lauren Ayton None; David Sousa None
  • Footnotes
    Support  PhD Scholarship from The University of Melbourne and Research Award from the Choroideremia Research Foundation
Investigative Ophthalmology & Visual Science June 2023, Vol.64, 3677. doi:
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      Sena Ayse Gocuk, Xavier Hadoux, Charmaine Catipon, Elise Cichello, Himeesh Kumar, Jasleen Kaur Jolly, Peter van Wijngaarden, Thomas Edwards, Lauren N. Ayton, David Cordeiro Sousa; Retinal vascular reactivity in carriers of X-linked inherited retinal disease – a study using optical coherence tomography angiography. Invest. Ophthalmol. Vis. Sci. 2023;64(8):3677.

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

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Abstract

Purpose : Female carriers of X-linked inherited retinal diseases (IRDs) can show highly variable phenotypes and disease progression. One theory for this is related to the underlying retinal vasculature. For prognostication and use as clinical trial endpoints, it is important to determine novel biomarkers of disease. Vascular reactivity, a potential IRD biomarker, has not been investigated in female carriers. In this study, optical coherence tomography angiography (OCT-A) was used to dynamically assess the retinal microvasculature of X-linked IRD carriers.

Methods : A controlled non-randomized study assessed 32 eyes of 11 X-linked IRD female carriers and 21 age-matched control women. Macular angiograms (3x3mm) were obtained using the Zeiss Plex Elite 9000® and two tests were applied: (i) mild hypoxia and (ii) handgrip test, to induce a vasodilatory or vasoconstrictive response, respectively. Vessel area density (VAD) and vessel length density (VLD) changes during each of the tests were independently evaluated for both the superficial and deep capillary plexuses. Image analysis was performed using Fiji software v2.9.0, and statistical analysis using STATA®.

Results : In the control group, physiologic decreases in the superficial and deep VAD were observed during the handgrip test (p<0.001 and p=0.037, respectively). Mean superficial VLD also decreased during the handgrip test (p=0.025), while the deep plexus did not significantly change (p=0.108). During hypoxia, VAD and VLD increased in the deep plexus (p=0.027 and p=0.052, respectively) but not in the superficial plexus. In carriers, the physiologic vascular responses seen in controls were not observed in either plexus during either test, with no difference in VAD or VLD noted.

Conclusions : Our work suggests that there is subclinical functional impairment of physiologic retinal vascular responses in carriers of X-linked IRD. Functional OCT-A may be a useful tool to assess dynamic retinal microvasculature changes. This may provide further insight into pathogenesis of X-linked IRD carriers or lead to the development of useful outcome measures for clinical trials.

This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.

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