Macular and optic disc edema and retinal vascular leakage in familial amyloid polyneuropathy with a transthyretin Val30Met mutation: a case report

Journal of Medical Case Reports

João Paulo Cunha¹  Joana Ferreira¹  Arnaldo Dias-Santos¹ 

[1] Hospital de Santo António dos Capuchos, Serviço de Oftalmologia, Alameda de Santo António dos Capuchos, 1169-050 Lisbon, Portugal

关键词: Retinal vascular leakage;    Optic disc edema;    Laser panretinal photocoagulation;    Intravitreal dexamethasone implant;    Familial amyloid polyneuropathy;    Cystoid macular edema;   

Others  :  1181025
DOI  :  10.1186/1752-1947-8-327

 received in 2013-12-14, accepted in 2014-08-15,  发布年份 2014

【 摘 要 】

Introduction

Familial amyloid polyneuropathy is a group of autosomal dominant disorders characterized by extracellular amyloid deposition in several target organs. This paper aims to report an unusual manifestation of retinal vascular leakage including optic disc and macular edema in a patient with familial amyloid polyneuropathy.

Case presentation

A 37-year-old Portuguese Caucasian man with Val30Met transthyretin-related familial amyloid polyneuropathy presented with rapidly progressing visual loss in his left eye. He had undergone liver transplantation at the age of 30 with neurologic stabilization. Fundoscopy and fluorescein angiogram revealed optic disc and macular edema as well as vessel wall staining with leakage in the posterior pole and mid-periphery, without vitreous opacities. A diagnostic work-up for infectious, autoimmune and neoplasic conditions was negative. Systemic immunosuppression was increased but without improvement. Sustained resolution of macular edema was observed after intravitreal injection of dexamethasone implant and laser panretinal photocoagulation.

Conclusions

To the best of our knowledge, this is the first report of a rare ocular manifestation of familial amyloid polyneuropathy which represents a new therapeutic challenge. Intravitreal injection of sustained release dexamethasone implant and panretinal photocoagulation may be an effective eye-saving therapeutic approach.

【 授权许可】

   
2014 Dias-Santos et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 4.

Figure 3.

Figure 4.

Figure 5.

【 参考文献 】

• [1]Saraiva MJ: Transthyretin mutations in hyperthyroxinemia and amyloid diseases. Hum Mutat 2001, 17:493-503.
• [2]Planté-Bordeneuve V, Said G: Familial amyloid polyneuropathy. Lancet Neurol 2011, 10(12):1086-1097.
• [3]Koike H, Misu K, Ikeda S, Ando Y, Nakazato M, Ando E, Yamamoto M, Hattori N, Sobue G, Study Group for Hereditary Neuropathy in Japan: Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan. Arch Neurol 2002, 59:1771-1776.
• [4]Benson MD, Kincaid JC: The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve 2007, 36:411-423.
• [5]Tawara S, Nakazato M, Kangawa K, Matsuo H, Araki S: Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type). Biochem Biophys Res Commun 1983, 15(116(3)):880-888.
• [6]Costa PP, Figueira AS, Bravo FR: Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy. Proc Natl Acad Sci U S A 1978, 75:4499-4503.
• [7]Herbert J, Wilcox JN, Pham KT, Fremeau RT Jr, Zeviani M, Dwork A, Soprano DR, Makover A, Goodman DS, Zimmerman EA, Roberts JL, Schon EA: Transthyretin: a choroid plexus-specific transport protein in human brain. The 1986 S. Weir Mitchell award. Neurology 1986, 36:900-911.
• [8]Holmgren G, Steen L, Ekstedt J, Groth CG, Ericzon BG, Eriksson S, Andersen O, Karlberg I, Nordén G, Nakazato M, Hawkins P, Richardson S, Pepys M: Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met30). Clin Genet 1991, 40:24-26.
• [9]Munar-Qués M, Salva-Ladaria L, Mulet-Perera P, Solé M, López-Andreu FR, Saraiva MJ: Vitreous amyloidosis after liver transplantation in patients with familial amyloid polyneuropathy: ocular synthesis of mutant transthyretin. Amyloid 2000, 7(4):266-269.
• [10]Ando E, Ando Y, Haraoka K: Ocular amyloid involvement after liver transplantation for polyneuropathy. Ann Intern Med 2001, 135(10):931-932.
• [11]Ando E, Ando Y, Okamura R, Uchino M, Ando M, Negi A: Ocular manifestations of familial amyloidotic polyneuropathy type I: long-term follow up. Br J Ophthalmol 1997, 81(4):295-298.
• [12]Kawaji T, Ando Y, Nakamura M, Yamashita T, Wakita M, Ando E, Hirata A, Tanihara H: Ocular amyloid angiopathy associated with familial amyloidotic polyneuropathy caused by amyloidogenic transthyretin Y114C. Ophthalmology 2005, 112(12):2212.
• [13]O’Hearn TM, Fawzi A, He S, Rao NA, Lim JI: Early onset vitreous amyloidosis in familial amyloidotic polyneuropathy with a transthyretin Glu54Gly mutation is associated with elevated vitreous VEGF. Br J Ophthalmol 2007, 91(12):1607-1609.
• [14]Zou X, Dong F, Zhang S, Tian R, Sui R: Transthyretin Ala36Pro mutation in a Chinese pedigree of familial transthyretin amyloidosis with elevated vitreous and serum vascular endothelial growth factor. Exp Eye Res 2013, 110:44-49.
• [15]Kawaji T, Ando Y, Hara R, Tanihara H: Novel therapy for transthyretin-related ocular amyloidosis: a pilot study of retinal laser photocoagulation. Ophthalmology 2010, 117(3):552-555.