Antoine Rousseau1, Céline Terrada2, Sara Touhami1, Emmanuel Barreau1, Pierre-Raphaël Rothschild3, Sophie Valleix4, Farida Benoudiba5, Marie-Hélène Errera6, Cécile Cauquil7, Anne Guiochon-Mantel8, David Adams7, Marc Labetoulle9. 1. Department of Ophthalmology, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, DHU Vision & Handicaps, Paris-Sud University, French Reference Center for Familial Transthyretin Amyloidosis (NNERF), French Reference Center for Rare Ophthalmologic Diseases (OPHTARA), Le Kremlin-Bicêtre, France. 2. Department of Ophthalmology, Lariboisière Hospital, Assistance Publique - Hôpitaux de Paris, DHU Vision et Handicap, Reference Center for Rare Vascular Diseases of the Central Nervous System and the Retina (CERVCO), Paris, France. 3. Department of Ophthalmology, Cochin Hospital, Assistance Publique - Hôpitaux de Paris, Paris-Ouest University, Paris, France. 4. Laboratoire de Biochimie et Génétique Moléculaire, Cochin Hospital, Assistance Publique - Hôpitaux de Paris, Paris-Ouest University, Paris, France. 5. Department of Neuroradiology, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, Paris-Sud University, Le Kremlin-Bicêtre, France. 6. Department of Ophthalmology, Quinze-Vingts National Eye Center, DHU Vision & Handicaps, Paris, France. 7. Department of Neurology, Bicêtre Hospital, APHP, Paris-Sud University, INSERM U 1195, French Reference Center for FTA (NNERF), Le Kremlin-Bicêtre, France. 8. Laboratoire de Biochimie et Génétique Moléculaire, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, Le Kremlin-Bicêtre, France. 9. Department of Ophthalmology, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, DHU Vision & Handicaps, Paris-Sud University, French Reference Center for Familial Transthyretin Amyloidosis (NNERF), French Reference Center for Rare Ophthalmologic Diseases (OPHTARA), Le Kremlin-Bicêtre, France. Electronic address: marc.labetoulle@aphp.fr.
Abstract
PURPOSE: To describe abnormalities in choroidal and retinal vasculature associated with Val30Met familial transthyretin amyloidosis (V30M-FTA) using fluorescein and indocyanine green (ICG) angiography. DESIGN: Prospective, cross-sectional study. METHODS: This study was conducted at the French National Reference Center for FTA. We included 18 consecutive genetically confirmed V30M-FTA patients (36 eyes) who underwent complete neurologic examination, including staging with polyneuropathy disability (PND) score, and complete ophthalmic evaluation, including staging of intraocular amyloid deposits and fluorescein and ICG angiograms (ICG-A). The grading of choroidal and retinal angiopathy, and their association with neurologic functional impairment, were the main outcome measures. RESULTS: Eleven men and 7 women, mean age 61.6 ± 12.1 years, were included. Retinal amyloid angiopathy (RAA) was detected in 24 eyes (92%) of 13 patients, with microaneurysms, retinal hemorrhages, and retinal ischemia of variable extent. Three patients (5 eyes) had neovascular glaucoma and 2 (2 eyes) had preretinal neovascularization. ICG-A indicated choroidal amyloid angiopathy (CAA) in all patients, with 3 distinct patterns-diffuse (9/18 patients), focal (5/18 patients), or punctiform (4/18 patients)-based on the extent of late hypercyanescence along the choroidal arteries. PND scores were significantly higher in patients with diffuse CAA (firework pattern) compared to those with limited CAA (focal and punctiform patterns) (2.89 vs 1.78, P = .045). CONCLUSION: RAA is a frequent and severe complication of V30M-FTA that may lead to anterior and posterior segment neovascularization. CAA was detected in all patients, with a late hypercyanescent delineation of the choroidal arterial vasculature, which was more extensive with increased disease severity.
PURPOSE: To describe abnormalities in choroidal and retinal vasculature associated with Val30Met familial transthyretin amyloidosis (V30M-FTA) using fluorescein and indocyanine green (ICG) angiography. DESIGN: Prospective, cross-sectional study. METHODS: This study was conducted at the French National Reference Center for FTA. We included 18 consecutive genetically confirmed V30M-FTA patients (36 eyes) who underwent complete neurologic examination, including staging with polyneuropathy disability (PND) score, and complete ophthalmic evaluation, including staging of intraocular amyloid deposits and fluorescein and ICG angiograms (ICG-A). The grading of choroidal and retinal angiopathy, and their association with neurologic functional impairment, were the main outcome measures. RESULTS: Eleven men and 7 women, mean age 61.6 ± 12.1 years, were included. Retinal amyloid angiopathy (RAA) was detected in 24 eyes (92%) of 13 patients, with microaneurysms, retinal hemorrhages, and retinal ischemia of variable extent. Three patients (5 eyes) had neovascular glaucoma and 2 (2 eyes) had preretinal neovascularization. ICG-A indicated choroidal amyloid angiopathy (CAA) in all patients, with 3 distinct patterns-diffuse (9/18 patients), focal (5/18 patients), or punctiform (4/18 patients)-based on the extent of late hypercyanescence along the choroidal arteries. PND scores were significantly higher in patients with diffuse CAA (firework pattern) compared to those with limited CAA (focal and punctiform patterns) (2.89 vs 1.78, P = .045). CONCLUSION: RAA is a frequent and severe complication of V30M-FTA that may lead to anterior and posterior segment neovascularization. CAA was detected in all patients, with a late hypercyanescent delineation of the choroidal arterial vasculature, which was more extensive with increased disease severity.
Authors: Angelo Maria Minnella; Roberta Rissotto; Elena Antoniazzi; Marco Di Girolamo; Marco Luigetti; Martina Maceroni; Daniela Bacherini; Benedetto Falsini; Stanislao Rizzo; Laura Obici Journal: Genes (Basel) Date: 2021-06-22 Impact factor: 4.096