Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics.

PubMed ID: 36100689

Author(s): Aguilera N, Liu T, Bower AJ, Li J, Abouassali S, Lu R, Giannini J, Pfau M, Bender C, Smelkinson MG, Naik A, Guan B, Schwartz O, Volkov A, Dubra A, Liu Z, Hammer DX, Maric D, Fariss R, Hufnagel RB, Jeffrey BG, Brooks BP, Zein WM, Huryn LA, Tam J. Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics. Commun Biol. 2022 Sep 13;5(1):893. doi: 10.1038/s42003-022-03842-7. PMID 36100689

Journal: Communications Biology, Volume 5, Issue 1, Sep 2022

Choroideremia is an X-linked, blinding retinal degeneration with progressive loss of photoreceptors, retinal pigment epithelial (RPE) cells, and choriocapillaris. To study the extent to which these layers are disrupted in affected males and female carriers, we performed multimodal adaptive optics imaging to better visualize the in vivo pathogenesis of choroideremia in the living human eye. We demonstrate the presence of subclinical, widespread enlarged RPE cells present in all subjects imaged. In the fovea, the last area to be affected in choroideremia, we found greater disruption to the RPE than to either the photoreceptor or choriocapillaris layers. The unexpected finding of patches of photoreceptors that were fluorescently-labeled, but structurally and functionally normal, suggests that the RPE blood barrier function may be altered in choroideremia. Finally, we introduce a strategy for detecting enlarged cells using conventional ophthalmic imaging instrumentation. These findings establish that there is subclinical polymegathism of RPE cells in choroideremia.

© 2022. This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply.