Ophthalmic manifestations in a Chinese family with familial amyloid polyneuropathy due to a TTR Gly83Arg mutation

Eye (Basingstoke)

Volumn 28, Issue 1, 2014, Pages 26-33

  Liu, T ^a,b   Zhang, B ^c   Jin, X ^a   Wang, W ^b   Lee, J ^d   Li, J ^e   Yuan, H ^a   Cheng, X ^c  

^a CHINESE PLA GENERAL HOSPITAL   (China)

^b Hainan Branch of Chinese PLA General Hospital   (China)

^c MEDICAL SCHOOL OF CHINESE PLA   (China)

^d UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^e NANKAI UNIVERSITY   (China)

Author keywords

Chinese; familial amyloid polyneuropathy; Gly83Arg; mutation; transthyretin; vitreous

Indexed keywords

AMYLOID; CONGO RED; GADOLINIUM; PREALBUMIN;

ADULT; ARTICLE; ATRIOVENTRICULAR BLOCK; BIOMICROSCOPY; CARDIOVASCULAR MAGNETIC RESONANCE; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DYSCORIA; ECHOCARDIOGRAPHY; ECHOOCULOGRAPHY; ELECTROCARDIOGRAPHY; ELECTROMYOGRAPHY; EXON; EYE DISEASE; EYE EXAMINATION; FAMILIAL AMYLOID POLYNEUROPATHY; FAMILY; FEMALE; FOLLOW UP; GENE; GENE AMPLIFICATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ANALYZER; HEART AMYLOIDOSIS; HEART LEFT VENTRICLE HYPERTROPHY; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INTRAOCULAR HYPERTENSION; INTRAOCULAR PRESSURE; LIMB PAIN; MALE; MEDICAL EXAMINATION; MEDICAL RECORD REVIEW; MIDDLE AGED; MISSENSE MUTATION; MOTOR DYSFUNCTION; NERVE FUNCTION; OPHTHALMOSCOPY; PERIPHERAL NERVE INJURY; PERIPHERAL NEUROPATHY; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYNEUROPATHY; PREALBUMIN GENE; RETINA ARTERY OCCLUSION; RETROSPECTIVE STUDY; SCHIRMER TEST; SECONDARY GLAUCOMA; SLIT LAMP; TRABECULECTOMY; VISUAL ACUITY; VITRECTOMY; VITREOUS BIOPSY; VITREOUS BODY; VITREOUS OPACITY; XEROPHTHALMIA;

ADULT; AMYLOID NEUROPATHIES, FAMILIAL; ASIAN CONTINENTAL ANCESTRY GROUP; CARDIOMYOPATHIES; CHINA; DNA MUTATIONAL ANALYSIS; ELECTROCARDIOGRAPHY; ELECTROOCULOGRAPHY; ENZYME-LINKED IMMUNOSORBENT ASSAY; EXONS; EYE DISEASES, HEREDITARY; FEMALE; HUMANS; INTRAOCULAR PRESSURE; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PREALBUMIN; VISUAL ACUITY; VITREOUS BODY;

EID: 84891956119     PISSN: 0950222X     EISSN: 14765454     Source Type: Journal    
DOI: 10.1038/eye.2013.217     Document Type: Article

References (33)

1. Ando Y, Araki S, Ando M. Transthyretin and familial amyloidotic polyneuropathy. Intern Med 1993; 32: 920-922
2. Shin SC, Robinson-Papp J. Amyloid neuropathies. Mt Sinai J Med 2012; 79: 733-748
3. Hund E, Linke RP, Willing F, Grau A. Transthyretinassociated neuropathic amyloidosis: Pathogenesis and treatment. Neurology 2001; 56: 431-435
4. Plante-Bordeneuve V, Said G. Familial amyloid polyneuropathy. Lancet Neurol 2011; 10: 1086-1097
5. Monaco HL. The transthyretin-retinol-binding protein complex. Biochim Biophys Acta 2000; 1482: 65-72
6. Herbert J, Wilocox JN, Pham KT, Fremeau RT, Zeviani M, Dwork A et al. Transthyretin: A choroid plexus-specific transport protein in human brain. Neurology 1986; 36: 900-911
7. Soprano DR, Herbert J, Soprano KJ, Schon EA, Goodman DS. Distribution of transthyretin mRNA in the brain and other extrahepatic tissue in the rat. J Biol Chem 1985; 260: 11793-11798
8. Dwork AJ, Cavallaro T, Martone RL, Goodman DS, Schon EA, Herbert J. Distribution of transthyretin in the rat eye. Invest Ophthalmol Vis Sci 1990; 31: 489-496
9. Jaworowski A, Fang Z, Khong TF, Augusteyn RC. Protein synthesis and secretion by cultured retinal pigment epithelia. Biochim Biophys Acta 1995; 1245: 121-129
10. Cavallaro T, Martone RL, Schon EA, Schon EA, Herbert J. The retinal pigment epithelium is the unique site of transthyretin synthesis in the rat eye. Invest Ophthalmol Vis Sci 1990; 31: 497-501
11. Hara R, Kawaji T, Ando E, Ohya Y, Ando Y, Tanihara H. Impact of liver transplantation on transthyretin-ralated ocular amyloidosis in japanese patients. Arch Ophthalmol 2010; 128: 206-210
12. Shi YN, Li J, Hu J, Hu J, Sun LJ, Li HJ et al. A new Arg54Gly transthyretin gene mutation associated with vitreous amyloidosis in chinese. Eye Sci 2011; 26: 230-238
13. Chen LY, Lu L, Li YH, Zhong H, Fang W, Zhang L et al. Transthyretin Arg-83 mutation in vitreous amyloidosis. Int J Ophthalmol 2011; 4: 329-331
14. Long D, Zeng J, Wu LQ, Tang LS, Wang HL, Wang H. Vitreous amyloidosis in two large mainland chinese kindreds resulting from transthyretin variant Lys35Thr and Leu55Arg. Ophthalmic Genet 2012; 33: 28-33
15. Liu JY, Guo YJ, Zhou CK, Ye YQ, Feng JQ, Yin F et al. Clinical and histopathological features of familial amyloidotic polyneuropathy with transthyretin Val30Ala in a chinese family. J Neuro Sci 2011; 304: 83-86
16. Zhang Y, Deng YL, Ma JF, Zheng L, Hong Z, Wang ZQ et al. Transthyretin-related hereditary amyloidosis in a chinese family with TTR Y114C mutation. Neurodegener Dis 2011; 8: 187-193
17. Xie Y, Zhao Y, Zhou JJ, Wang X. Identification of a TTR gene mutation in a family with hereditary vitreous amyloidosis. Chin J Med Genet 2012; 29: 13-15
18. Busse A, Sanchez MA, Monterroso V, Alvarado MV, León P. A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys Am J Med Genet A 2004; 128A: 190-194
19. Strege RJ, Saeger W, Linke RP. Diagnosis and immunohistochemical classification of systemic amyloidoses. Report of 43 cases in an unselected autopsy series. Virchows Arch 1998; 433: 19-27
20. Jackson E, Bellenger N, Seddon M, Harden S, Peebles C. Ischaemic and non-ischaemic cardiomyopathies-cardiac MRI appearances with delayed enhancement. Clin Radiol 2007; 62: 395-403
21. Arnold K, Bordoli L, Kopp J, Schwede T. The SWISS-MODEL workspace: A web-based environment for protein structure homology modeling. Bioinformatics 2006; 22: 195-201
22. Naylor HM, Newcomer ME. The structure of human retinol-binding protein (RBP) with its carrier protein transthyretin reveals an interaction with the carboxy terminus of RBP. Biochemistry 1999; 38: 2647-2653
23. Zanotti G, Folli C, Cendron L, Alfieri B, Nishida SK, Gliubich F et al. Structural and mutational analyses of protein-protein interactions between transthyretin and retinol-binding protein. FEBS J 2008; 275: 5841-5854
24. Ando E, Ando Y, Okamura R, Uchino M, Ando M, Negi A. Ocular manifestation of familial amyloidotic polyneuropathy type I: Long-term follow up. Br J Ophthalmol 1997; 81: 295-298
25. Zambarakji HJ, Charteris DG, AyliffeW, Luthert PJ, Schon F, Hawkins PN. Vitreous amyloidosis in alanine 71 transthyretin mutation. Br J Ophthalmol 2005; 89: 773-774
26. Sandgren O, Drugge U, Holmgren G, Sousa A. Vitreous involvement in familial amyloidotic neuropathy: A genealogical and genetic study. Clin Genet 1991; 40: 452-460
27. Silva-Araú jo AC, Tavares MA, Cotta JS, Castro-Correia JF. Aqueous outflow system in familial amyloidotic polyneuropathy, Portuguese type. Graefes Arch Clin Exp Ophthalmol 1993; 231: 131-135
28. Kimura A, Ando E, Fukushima M, Koga T, Hirata A, Arimura K et al. Secondary glaucoma in patients with familial amyloidotic polyneuropathy. Arch Ophthalmol 2003; 121: 351-356
29. Yamamoto S, Wilczek HE, Nowak G, Larsson M, Oksanen A, Iwata T et al. Liver transplantation for familial amyloidotic polyneuropathy (FAP): A single-center experience over 16 years. Am J Transplant 2007; 7: 2597-2604
30. Kawaiji T. Retinal laser photocoagulation for familial transthyretin-related ocular amyloidosis. Nihon Ganka Gakkai Zasshi 2012; 116: 1046-1051
31. Kawaiji T, Ando Y, Hara R, Tanihara H. Novel therapy for transthyretin-related ocular amyloidosis: A pilot study of retinal laser photocoagulation. Ophthalmology 2010; 117: 552-555
32. Berni R,Malpeli G, Folli C, Murrell JR, Liepnieks JJ, Benson MD. The Ile-84-4Ser amino acid substitution in transthyretin interferes with the interaction with plasma retinol-binding protein. J Biol Chem 1994; 269: 23395-23398
33. Waits RP, Yamada T, Uemichi T, Benson MD. Low plasma concentrations of retinol-binding protein in individuals with mutations affecting position 84 of the transthyretin molecule. Clin Chem 1995; 41: 1288-1291