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Amyloid
The Journal of Protein Folding Disorders
Volume 26, 2019 - Issue 1
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Original Article

Transthyretin deposition in the eye in the era of effective therapy for hereditary ATTRV30M amyloidosis

Joel N. BuxbaumThe Scripps Research Institute, La Jolla, CA, USA; Correspondence[email protected]
,
Thomas Brannagan IIIDepartment of Neurology, NewYork–Presbyterian Hospital, New York, NY, USA;
,
Juan Buades-ReinésDepartment of Internal Medicine, Son Llatzer Hospital, Palma de Mallorca, Spain;
,
Eugenia CisnerosDepartment of Cardiology, Son Llatzer Hospital, Palma de Mallorca, Spain;
,
Isabel ConceicaoDepartment of Neurosciences, Centro Hospitalar Lisboa Norte-Hospital Santa Maria, Lisbon, Portugal; ;IIM, Faculdade de Medicina de Lisboa, Lisbon, Portugal;
,
Theodoros KyriakidesCyprus Instirute of Neurology and Genetics, Nicosia, Cyprus;
,
Giampaolo MerliniDepartment of Molecular Medicine, University of Pavia, Policlinico San Matteo, Pavia, Italy;
,
Laura ObiciFondazione IRCCS Policlinico San Matteo, Amyloid Research and Treatment Center, Biotechnology Research Laboratories, Pavia, Italy;
,
Violaine Plante-BordeneuveDepartment of Neurology, Hopital Nenri Mondor, Creteil, France;
,
Antoine RousseauDepartment of Ophthalmology, French Reference Center for familial transthyretin amyloidosis (NNERF), French Reference Network for rare Ophthalmologic diseases (OPHTARA), Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, DHU Vision & Handicaps, Paris-Sud, Le Kremlin-Bicêtre, France;
,
Yoshiki SekijimaDepartment of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan;
,
Akira ImaiDepartment of Opthalmology, Shinshu University School of Medicine, Matsumoto, Japan;
,
Márcia Waddington CruzDepartment ofNeurology, Federal University of Rio de Janeiro, Rua Professor Rodolpho Paulo Rocco, Rio de Janeiro, Brazil;
&
Masahito YamadaDepartment of Neurology & Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan
 show all
Pages 10-14 | Received 02 Oct 2018, Accepted 28 Nov 2018, Published online: 24 Jan 2019

Citations (23)

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A Di Paolantonio, A Romano, V Guglielmino, F Vitali, MA Sciarrone, G Bisogni, T Verdolotti, M Maceroni, AM Minnella & M Luigetti. (2023) Central nervous system involvement in two siblings affected by hereditary transthyretin amyloidosis 30 years after liver transplantation: a model for gene-silencing therapies. Neurological Research 45:8, pages 773-778.
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João Heitor Marques, João Coelho, Maria João Menéres & João Melo Beirão. (2022) Monitoring the Patient with Retinal Angiopathy Associated with Hereditary Transthyretin Amyloidosis: Current Perspectives. Clinical Ophthalmology 16, pages 2227-2233.
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João Heitor Marques, João Coelho, Jorge Malheiro, Bernardete Pessoa & João Melo Beirão. (2021) Subclinical retinal angiopathy associated with hereditary transthyretin amyloidosis – assessed with optical coherence tomography angiography. Amyloid 28:1, pages 66-71.
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Articles from other publishers (20)

Chiara Cambieri, Marco Marenco, Tania Colasanti, Carmine Mancone, Alessandro Corsi, Mara Riminucci, Laura Libonati, Federica Moret, Cristina Chimenti, Alessandro Lambiase, Fabrizio Conti, Matteo Garibaldi, Maurizio Inghilleri & Marco Ceccanti. (2023) Does Patisiran Reduce Ocular Transthyretin Synthesis? A Pilot Study of Two Cases. Current Neuropharmacology 21:12, pages 2543-2549.
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David Adams, Yoshiki Sekijima, Isabel Conceição, Marcia Waddington-Cruz, Michael Polydefkis, Andoni Echaniz-Laguna & Mary M Reilly. (2023) Hereditary transthyretin amyloid neuropathies: advances in pathophysiology, biomarkers, and treatment. The Lancet Neurology 22:11, pages 1061-1074.
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Luisa Frizziero, Alessandro Salvalaggio, Eleonora Cosmo, Alberto Cipriani, Edoardo Midena & Chiara Briani. (2023) Ophthalmological involvement in wild‐type transthyretin amyloidosis: A multimodal imaging study. Journal of the Peripheral Nervous System.
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Junya Kitahara, Shinji Kakihara, Shuji Mukawa, Takao Hirano, Akira Imai, Teruyoshi Miyahara & Toshinori Murata. (2023) Long-term surgical results of trabeculectomy for secondary glaucoma in Val30Met hereditary transthyretin amyloidosis. Scientific Reports 13:1.
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D. Adams. (2023) Neuropathie amyloïde à transthyrétine : du diagnostic au traitement. Bulletin de l'Académie Nationale de Médecine 207:5, pages 583-593.
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Efthimios Dardiotis & Theodoros Kyriakides. (2023) Drug and Gene Therapy for Treating Variant Transthyretin Amyloidosis (ATTRv) Neuropathy. Current Neuropharmacology 21:3, pages 471-481.
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Nathan Carberry, Sun Yu, Raisy N. Fayerman, Rachelle Dugue, Michael Miller, Kurenai Tanji, Tarini Goyal, Peter Canoll & Thomas H. BrannaganIIIIII. (2022) Leptomeningeal Disease Secondary to Thr60Ala Transthyretin Amyloidosis: Case Report and Review of the Literature. The Neurohospitalist 13:1, pages 90-95.
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Carlos Casasnovas, Laura Lladó, Cristina Borrachero, Patricia Valentina Pérez-Santamaría, Francisco Muñoz-Beamud, Inés Asunción Losada-López, Maria Carme Baliellas-Comellas & Juan González-Moreno. (2023) A narrative review and expert recommendations on the assessment of the clinical manifestations, follow-up, and management of post-OLT patients with ATTRv amyloidosis. Therapeutic Advances in Neurological Disorders 16.
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Jorge Ruiz-Medrano, Mariluz Puertas, Elena Almazán-Alonso, Marina Fernández-Jiménez, Ignacio Flores-Moreno, Clara Salas Antón, Pablo García-Pavía & José M. Ruiz-Moreno. (2023) OPHTHALMOLOGIC INVOLVEMENT IN PATIENTS WITH HEREDITARY TRANSTHYRETIN AMYLOIDOSIS. Retina 43:1, pages 49-56.
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Thomas H. Brannagan3rd3rd, John L. Berk, Julian D. Gillmore, Mathew S. Maurer, Márcia Waddington‐Cruz, Marianna Fontana, Ahmad Masri, Laura Obici, Michela Brambatti, Brenda F. Baker, Lisa A. Hannan, Gustavo Buchele, Nick J. Viney, Teresa Coelho & Jose Nativi‐Nicolau. (2022) Liver‐directed drugs for t ransthyretin‐mediated amyloidosis . Journal of the Peripheral Nervous System 27:4, pages 228-237.
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Fukutaro Mano, Yoshihiro Yonekawa, Shinji Kakihara, Jorge Fortun, Enrico Borrelli, Francesco Bandello, Toshinori Murata, Shunji Kusaka, Angela Dispenzieri & Jose S. Pulido. (2022) CHOROIDAL AMYLOID DEPOSITION. Retina 42:10, pages 1989-1994.
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Shinji Kakihara, Takao Hirano, Junya Kitahara, Yorishige Matsuda, Akira Imai, Teruyoshi Miyahara & Toshinori Murata. (2022) Application of optical coherence tomography angiography to assess systemic severity in patients with hereditary transthyretin amyloidosis. PLOS ONE 17:9, pages e0275180.
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Pathma Thiagasorupan, Emmanuel Barreau, Gaël Gendron, Eric Frau, Cécile Cauquil, David Adams, Marc Labetoulle & Antoine Rousseau. (2021) Specific postoperative complications of vitrectomy in hereditary transthyretin amyloidosis. European Journal of Ophthalmology 32:2, pages 1149-1156.
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Shinji Kakihara, Takao Hirano, Junya Kitahara, Yorishige Matsuda, Akira Imai, Teruyoshi Miyahara & Toshinori Murata. (2022) OCULAR ANGIOGRAPHIC FEATURES IN JAPANESE PATIENTS WITH VAL30MET HEREDITARY TRANSTHYRETIN AMYLOIDOSIS. Retina 42:1, pages 210-215.
Crossref
Shinji Kakihara, Takao Hirano, Yorishige Matsuda, Daiki Takano, Akira Imai, Teruyoshi Miyahara & Toshinori Murata. (2021) Deposits on Retinal Surface Seen on OCT in Ocular Amyloidosis. Ophthalmology Retina 5:10, pages 1005-1008.
Crossref
E. Debourdeau, C. Zagroun & V. Daien. (2021) Amylose vitréorétinienne héréditaire : à propos d’un cas. Journal Français d'Ophtalmologie 44:7, pages 1084-1086.
Crossref
Marco Luigetti & Serenella Servidei. (2021) Patisiran in hereditary transthyretin-mediated amyloidosis. The Lancet Neurology 20:1, pages 21-23.
Crossref
Evan T. Powers & Jeffery W. Kelly. 2021. Neurotherapeutics in the Era of Translational Medicine. Neurotherapeutics in the Era of Translational Medicine 65 103 .
M. Grandis, L. Obici, M. Luigetti, C. Briani, F. Benedicenti, G. Bisogni, M. Canepa, F. Cappelli, C. Danesino, G. M. Fabrizi, S. Fenu, G. Ferrandes, C. Gemelli, F. Manganelli, A. Mazzeo, L. Melchiorri, F. Perfetto, L. G. Pradotto, P. Rimessi, G. Tini, S. Tozza, L. Trevisan, D. Pareyson & P. Mandich. (2020) Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus. Orphanet Journal of Rare Diseases 15:1.
Crossref
Shinji Kakihara, Takao Hirano, Akira Imai, Teruyoshi Miyahara & Toshinori Murata. (2020) Baerveldt glaucoma drainage implant surgery for secondary glaucoma in patients with transthyretin-related familial amyloid polyneuropathy. Japanese Journal of Ophthalmology 64:5, pages 533-538.
Crossref

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