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

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.

• Authors: Andrea Sodi, Dominique P Germain, Daniela Bacherini, Lucia Finocchio, Bianca Pacini, Elisa Marziali, Chiara Lenzetti, Ilaria Tanini, Fairouz Koraichi, Caroline Coriat, Patrizia Nencini, Iacopo Olivotto, Gianni Virgili, Stanislao Rizzo, Michel Paques
• Journal: Retina (Philadelphia, Pa.) (Retina) Vol. 40 Issue 8 Pg. 1623-1629 (Aug 2020) ISSN: 1539-2864 [Electronic] United States
• PMID: 31568064 (Publication Type: Journal Article, Multicenter Study)

Chemical References

• Sphingolipids

Topics

• Adult
• Aged
• Arterioles (diagnostic imaging, pathology)
• Fabry Disease (diagnostic imaging, physiopathology)
• Female
• Humans
• Male
• Middle Aged
• Muscle, Smooth, Vascular (diagnostic imaging, metabolism)
• Ophthalmoscopy (methods)
• Optics and Photonics
• Retinal Artery (diagnostic imaging, pathology)
• Sphingolipids (metabolism)
• Young Adult