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Multicenter Study
. 2020 Aug;40(8):1623-1629.
doi: 10.1097/IAE.0000000000002648.

IN VIVO OBSERVATION OF RETINAL VASCULAR DEPOSITS USING ADAPTIVE OPTICS IMAGING IN FABRY DISEASE

Andrea Sodi  1 , Dominique P Germain  2   3 , Daniela Bacherini  1 , Lucia Finocchio  1 , Bianca Pacini  1 , Elisa Marziali  1 , Chiara Lenzetti  1 , Ilaria Tanini  4 , Fairouz Koraichi  2   3 , Caroline Coriat  5   6 , Patrizia Nencini  7 , Iacopo Olivotto  4 , Gianni Virgili  1 , Stanislao Rizzo  1 , Michel Paques  5   6
Affiliations
Multicenter Study

IN VIVO OBSERVATION OF RETINAL VASCULAR DEPOSITS USING ADAPTIVE OPTICS IMAGING IN FABRY DISEASE

Andrea Sodi et al. Retina. 2020 Aug.

Abstract

Purpose: To report a novel finding in patients with Fabry disease, that is, the observation by adaptive optics ophthalmoscopy of intracellular lipidic deposits in retinal vessels.

Methods: Observational two-center case series. Eighteen patients with genetically proven Fabry disease underwent flood-illumination adaptive optics ophthalmoscopy imaging (rtx1; Imagine Eyes, Orsay, France) of retinal vessels.

Results: Fourteen patients (78% of all patients; 7 of the 10 women and 7 of the 8 men) showed paravascular punctuate or linear opacities in both eyes. In the least-affected patients, these were seen only in the wall of precapillary arterioles as discrete spots of 5 µm to 10 µm large, whereas in those more severely affected, capillaries and first-order vessels were also involved with diffuse opacification of the wall. These deposits sometime showed a striated pattern, suggesting colocalization with vascular smooth muscle cells.

Conclusion: Adaptive optics ophthalmoscopy of retinal vessels may be of interest for patients with Fabry disease, providing noninvasive, gradable evaluation of microvascular involvement.

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References

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