Andrea Sodi1, Dominique P Germain2,3, Daniela Bacherini1, Lucia Finocchio1, Bianca Pacini1, Elisa Marziali1, Chiara Lenzetti1, Ilaria Tanini4, Fairouz Koraichi2,3, Caroline Coriat5,6, Patrizia Nencini7, Iacopo Olivotto4, Gianni Virgili1, Stanislao Rizzo1, Michel Paques5,6. 1. Department of Translational Surgery and Medicine, Ophthalmology, University of Florence, Azienda Ospedaliero-universitaria Careggi, Florence, Italy. 2. Division of Medical Genetics, French Referral Center for Fabry Disease, Assistance Publique-Hôpitaux de Paris, Garches, France. 3. University of Versailles, Montigny, France. 4. Cardiomyopathy Unit, Department of Cardiology, University of Florence, Azienda Ospedaliero-universitaria Careggi, Florence, Italy. 5. Department of Ophthalmology, Quinze-Vingts Hospital, INSERM-DHOS CIC 1423, Paris, France. 6. Sorbonne Universités, Paris, France; and. 7. Stroke Unit and Neurology, Heart and Vessels Department, University of Florence, Azienda Ospedaliero-universitaria Careggi, Florence, Italy.
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.
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.