1. Retinal vascular reactivity in carriers of X-linked inherited retinal disease – a study using optical coherence tomography angiography
- Author
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Sena Ayse Gocuk, Xavier Hadoux, Charmaine Catipon, Elise Cichello, Himeesh Kumar, Jasleen Kaur Jolly, Peter van Wijngaarden, Thomas Llewelyn Edwards, Lauren Nicole Ayton, and David Cordeiro Sousa
- Subjects
carrier ,females ,X-linked ,inherited retinal disease ,OCT-A ,retinal vasculature ,Medicine - Abstract
PurposeFemale carriers of X-linked inherited retinal diseases (IRDs) can show highly variable phenotypes and disease progression. Vascular reactivity, a potential disease biomarker, has not been investigated in female IRD carriers. In this study, functional optical coherence tomography angiography (OCT-A) was used to dynamically assess the retinal microvasculature of X-linked IRD carriers.MethodsGenetically confirmed female carriers of IRDs (choroideremia or X-linked retinitis pigmentosa), and healthy women were recruited. Macular angiograms (3x3mm, Zeiss Plex Elite 9000) were obtained in 36 eyes of 15 X-linked IRD female carriers and 21 age-matched control women. Two tests were applied to test vascular reactivity: (i) mild hypoxia and (ii) handgrip test, to induce a vasodilatory or vasoconstrictive response, respectively. Changes to vessel density (VD) and vessel length density (VLD) were independently evaluated during each of the tests for both the superficial and deep capillary plexuses.ResultsIn the control group, the superficial and deep VD decreased during the handgrip test (p0.05).ConclusionsFunctional OCT-A is a useful tool to assess dynamic retinal microvascular changes. Subclinical impairment of the physiological vascular responses seen in carriers of X-linked IRDs may serve as a valuable clinical biomarker.
- Published
- 2024
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