Long-term follow-up observation after vitrectomy in a family with vitreous amyloidosis due to transthyretin gene Gly83Arg mutation_Chinese Journal of Ocular Fundus Diseases

Authors：

Li Hong , Chen Xingwang , Su Gang , Ren Huixuan , Gou Yue , Jiang Mo , Nie Xiaomei , Xie Bin ,  Cai Shanjun

Department of Ophthalmology, Guizhou Eye Hospital, The Affiliated Hospital of Zunyi Medical University, Guizhou Branch of National Clinical Research Center for Ophthalmopathy, Special Key Laboratory of Ocular Diseases of Guizhou Province, Zunyi 563003, China;

Corresponding author：

Cai Shanjun, Email: caishanjun163.com

Keywords：

Amyloidosis, familial; Vitrectomy; Glaucoma

DOI：

10.3760/cma.j.cn511434-20201231-00653

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Objective To investigate the causes of secondary glaucoma after vitrectomy for familial vitreous amyloidosis associated with transthyretin (TTR) gene Gly83Arg mutation.Methods A retrospective case study. From January 2008 to January 2020, 13 cases (23 eyes) with hereditary vitreous amyloidosis and treated by vitrectomy in the Affiliated Hospital of Zunyi Medical University were collected. Among them, there were 7 males with 12 eyes and 6 females with 11 eyes. The average age was 43.0±4.8 years. All the affected eyes underwent standard three-channel vitrectomy through the flat part of the ciliary body. According to whether complete vitreous detachment (PVD) was formed during the operation, it was divided into complete PVD group and incomplete PVD group; according to the occurrence time of secondary glaucoma and vitreous amyloidosis after surgery, it was divided into 1-12 months group and 13-36 months group, ＞37 months group. The average follow-up time after surgery was 36.7±6.0 months. The incidence of secondary glaucoma and the recurrence rate of vitreous amyloidosis between groups were compared by χ² test; the correlation between recurrence of vitreous amyloidosis and secondary glaucoma after surgery was analyzed by Spearman rank correlation analysis.Results Among the 23 eyes, there were 8 eyes in the complete PVD group and 15 eyes in the incomplete PVD group, respectively. Vitreous amyloidosis recurred in 15 eyes (65.22%, 15/23) after surgery. There were 14 (93.30%, 14/15) and 1 (6.70%, 1/15) eyes in the incomplete PVD group and the complete PVD group, respectively; the comparison of the recurrence rate of vitreous amyloidosis between the two groups was statistically significant (χ²=11.676, P＜0.01). 1-12 months group, 13-36 months group, ＞37 months group included 1 (4.35%, 1/23), 12 (52.17%, 12/23), 2 (8.70%, 2/23) Only eye. The recurrence rate in the 13-36 months group was significantly higher than that in the 1-12 months group and ＞37 month group. Secondary glaucoma occurred in 11 eyes (47.80%, 11/23) after surgery. 1-12 months group, 13-36 months group, above 37 months group were 1 (4.35%, 1/23), 8 (34.78%, 8/23), 2 (8.70%, 2/23) eyes. The incidence of secondary glaucoma in the 13-36 months group was higher than that in the 1-12 months group and ＞37 months group. Among 11 eyes with secondary glaucoma, 10 eyes had recurrence of vitreous amyloidosis after surgery, and 1 eye had no recurrence. The results of Spearman rank correlation analysis showed that there was a positive correlation between the recurrence of vitreous amyloidosis and the occurrence of secondary glaucoma (r_s=0.516, P=0.012).Conclusion The incidence of secondary glaucoma after vitrectomy in a family with vitreous amyloidosis caused by the Gly83Arg mutation of TTR gene is higher, and its occurrence is significantly positively correlated with the recurrence of vitreous amyloidosis.

Citation： Li Hong, Chen Xingwang, Su Gang, Ren Huixuan, Gou Yue, Jiang Mo, Nie Xiaomei, Xie Bin, Cai Shanjun. Long-term follow-up observation after vitrectomy in a family with vitreous amyloidosis due to transthyretin gene Gly83Arg mutation. Chinese Journal of Ocular Fundus Diseases, 2021, 37(6): 418-422. doi: 10.3760/cma.j.cn511434-20201231-00653 Copy

1.	Ando E, Ando Y, Okamura R, et al. Ocular manifestations of familial amyloidotic polyneuropathy type Ⅰ: long-term follow up[J]. Br J Ophthalmol, 1997, 81(4): 295-298. DOI: 10.1136/bjo.81.4.295.
2.	Venkatesh P, Selvan H, Singh SB, et al. Vitreous amyloidosis: ocular, systemic, and genetic insights[J]. Ophthalmology, 2017, 124(7): 1014-1022. DOI: 10.1016/j.ophtha.2017.03.011.
3.	Ishida K, Nishida T, Niimi Y, et al. Elderly onset vitreous opacities as the initial manifestation in hereditary transthyretin (ATTR Val30Met) carries[J]. Ophthalmic Genet, 2017, 38(4): 387-391. DOI: 10.1080/13816810.2016.1232413.
4.	Liu T, Zhang B, Jin X, et al. Ophthalmic manifestations in a Chinese family with familial amyloid polyneuropathy due to a TTR Gly83Arg mutation[J]. Eye (Lond), 2014, 28(1): 26-33. DOI: 10.1038/eye.2013.217.
5.	谢兵, 蔡善君, 郑志勇. 家族性玻璃体淀粉样变性甲状腺激素结合蛋白Gly83Arg突变一家系[J]. 中华眼底病杂志, 2016, 32(3): 312-314. DOI: 10.3760/cma.j.1005-1015 2016.03.021.Xie B, Cai SJ, Zheng ZY. A family with a mutation of thyroid hormone binding protein Gly83Arg in familial vitreous amyloidosis[J]. Chin J Ocul Fundus Dis, 2016, 32(3): 312-314. DOI: 10.3760/cma.j.1005-1015 2016.03.021.
6.	李中文, 吴雪芳, 潘涵英, 等. 玻璃体切割术治疗玻璃体淀粉样变性的疗效分析[J]. 中华实验眼科杂志, 2016, 34(8): 720-723. DOI: 10.3760/cma.j.issn.2095-0160.2016.08.011.Li ZW, Wu XF, Pan HY, et al. Effecacy of vitrectomy for vitreous amyloidosis[J]. Clin J Exp Ophthalmol, 2016, 34(8): 720-723. DOI: 10.3760/cma.j.issn.2095-0160.2016.08.011.
7.	Ferreira NN, Cunha Dias DA, Afonso Carvalho RP, et al. Re-intervention in de novo vitreous opacities after pars plana vitrectomy in familial amyloidotic polyneuropathy TTR Val30Met protuguse patients[J]. Retin Cases Brief Rep, 2019, 13(3): 273-278. DOI: 10.1097/ICB.0000000000000578.
8.	Beirão NM, Matos ME, Meneres MJ, et al. Vitreous surgery impact in glaucoma development in liver transplanted familial amyloidosis ATTR V30M portuguese patients[J]. Amyloid, 2012, 19(3): 146-151. DOI: 10.3109/13506129.2012.710669.
9.	Benson MD, Kincaid JC. The molecular biology and clinical features of amyloid neuropathy[J]. Muscle Nerve, 2007, 36(4): 411-423. DOI: 10.1002/mus.20821.
10.	Xie B, Cai SJ, Jiang M, et al. Familial vitreous amyloidosis resulting from transthyretin variant Gly83Arg [J/OL]. Acta Ophthalmol, 2017, 95(6): e520-e521[2017-03-07]. https://pubmed.ncbi.nlm.nih.gov/28266151/. DOI: 10.1111/aos.13425.
11.	Beirão JM, Malheiro J, Lemos C, et al. Ophthalmological manifestations in hereditary transthyretin (ATTR V30M) carriers: a review of 513 cases[J]. Amyloid, 2015, 22(2): 117-122. DOI: 10.3109/13506129.2015.1015678.
12.	Kimura A, Ando E, Fukushima M, et al. Secondary glaucoma in patients with familial amyloidotic polyneuropathy[J]. Arch Ophthalmol, 2003, 121(3): 351-356. DOI: 10.1001/archopht.121.3.351.
13.	Gama IF, Almeida LD. De novo intraocular amyloid deposition after hepatic transplantation in familial amyloidotic polyneuropathy[J]. World J Transplant, 2017, 7(4): 243-239. DOI: 10.5500/wjt.v7.i4.243.
14.	Koga T, Ando E, Hirata A, et al. Vitreous opacities and outcome of vitreous surgery in patients with familial amyloidotic polyneuropathy[J]. Am J Ophthalmol, 2003, 135(2): 188-193. DOI: 10.1016/s0002-9394(02)01838-x.
15.	Mansukhani SA, Barkmeier AJ, Bakri SJ, et al. The risk of primary open-angle glaucoma following vitreoretinal surgery-a population-based study[J]. Am J Ophthalmol, 2018, 193: 143-155. DOI: 10.1016/j.ajo.2018.06.010.
16.	Mizuno R, Cavallaro T, Herbert J. Temporal expression of the transthyretin gene in the developing rat eye[J]. Invest Ophthalmol Vis Sci, 1992, 33(2): 341-349.
17.	林海燕,戴荣平. 转甲状腺素蛋白相关家族性淀粉样多神经病变的眼部表现[J]. 中华眼科杂志, 2017, 53(10): 783-785. DOI: 10.3760/cma.j.issn.0412-4081.2017.10.014.Lin HY, Dai RP. The ocular involvement in the transthyretin-related familial amyloid polyneuropathy[J]. Chin J Ophthalmol, 2017, 53(10): 783-785. DOI: 10.3760/cma.j.issn.0412-4081.2017.10.014.
18.	Beirão NM, Matos E, Beirão I, et al. Recurrence of vitreous amyloidosis and need of surgical reintervention in portuguese patients with familial amyloidosis ATTR V30M[J]. Retina, 2011, 31(7): 1373-1377. DOI: 10.1097/IAE.0b013e318203c0c2.

1. Ando E, Ando Y, Okamura R, et al. Ocular manifestations of familial amyloidotic polyneuropathy type Ⅰ: long-term follow up[J]. Br J Ophthalmol, 1997, 81(4): 295-298. DOI: 10.1136/bjo.81.4.295.
2. Venkatesh P, Selvan H, Singh SB, et al. Vitreous amyloidosis: ocular, systemic, and genetic insights[J]. Ophthalmology, 2017, 124(7): 1014-1022. DOI: 10.1016/j.ophtha.2017.03.011.
3. Ishida K, Nishida T, Niimi Y, et al. Elderly onset vitreous opacities as the initial manifestation in hereditary transthyretin (ATTR Val30Met) carries[J]. Ophthalmic Genet, 2017, 38(4): 387-391. DOI: 10.1080/13816810.2016.1232413.
4. Liu T, Zhang B, Jin X, et al. Ophthalmic manifestations in a Chinese family with familial amyloid polyneuropathy due to a TTR Gly83Arg mutation[J]. Eye (Lond), 2014, 28(1): 26-33. DOI: 10.1038/eye.2013.217.
5. 谢兵, 蔡善君, 郑志勇. 家族性玻璃体淀粉样变性甲状腺激素结合蛋白Gly83Arg突变一家系[J]. 中华眼底病杂志, 2016, 32(3): 312-314. DOI: 10.3760/cma.j.1005-1015 2016.03.021.Xie B, Cai SJ, Zheng ZY. A family with a mutation of thyroid hormone binding protein Gly83Arg in familial vitreous amyloidosis[J]. Chin J Ocul Fundus Dis, 2016, 32(3): 312-314. DOI: 10.3760/cma.j.1005-1015 2016.03.021.
6. 李中文, 吴雪芳, 潘涵英, 等. 玻璃体切割术治疗玻璃体淀粉样变性的疗效分析[J]. 中华实验眼科杂志, 2016, 34(8): 720-723. DOI: 10.3760/cma.j.issn.2095-0160.2016.08.011.Li ZW, Wu XF, Pan HY, et al. Effecacy of vitrectomy for vitreous amyloidosis[J]. Clin J Exp Ophthalmol, 2016, 34(8): 720-723. DOI: 10.3760/cma.j.issn.2095-0160.2016.08.011.
7. Ferreira NN, Cunha Dias DA, Afonso Carvalho RP, et al. Re-intervention in de novo vitreous opacities after pars plana vitrectomy in familial amyloidotic polyneuropathy TTR Val30Met protuguse patients[J]. Retin Cases Brief Rep, 2019, 13(3): 273-278. DOI: 10.1097/ICB.0000000000000578.
8. Beirão NM, Matos ME, Meneres MJ, et al. Vitreous surgery impact in glaucoma development in liver transplanted familial amyloidosis ATTR V30M portuguese patients[J]. Amyloid, 2012, 19(3): 146-151. DOI: 10.3109/13506129.2012.710669.
9. Benson MD, Kincaid JC. The molecular biology and clinical features of amyloid neuropathy[J]. Muscle Nerve, 2007, 36(4): 411-423. DOI: 10.1002/mus.20821.
10. Xie B, Cai SJ, Jiang M, et al. Familial vitreous amyloidosis resulting from transthyretin variant Gly83Arg [J/OL]. Acta Ophthalmol, 2017, 95(6): e520-e521[2017-03-07]. https://pubmed.ncbi.nlm.nih.gov/28266151/. DOI: 10.1111/aos.13425.
11. Beirão JM, Malheiro J, Lemos C, et al. Ophthalmological manifestations in hereditary transthyretin (ATTR V30M) carriers: a review of 513 cases[J]. Amyloid, 2015, 22(2): 117-122. DOI: 10.3109/13506129.2015.1015678.
12. Kimura A, Ando E, Fukushima M, et al. Secondary glaucoma in patients with familial amyloidotic polyneuropathy[J]. Arch Ophthalmol, 2003, 121(3): 351-356. DOI: 10.1001/archopht.121.3.351.
13. Gama IF, Almeida LD. De novo intraocular amyloid deposition after hepatic transplantation in familial amyloidotic polyneuropathy[J]. World J Transplant, 2017, 7(4): 243-239. DOI: 10.5500/wjt.v7.i4.243.
14. Koga T, Ando E, Hirata A, et al. Vitreous opacities and outcome of vitreous surgery in patients with familial amyloidotic polyneuropathy[J]. Am J Ophthalmol, 2003, 135(2): 188-193. DOI: 10.1016/s0002-9394(02)01838-x.
15. Mansukhani SA, Barkmeier AJ, Bakri SJ, et al. The risk of primary open-angle glaucoma following vitreoretinal surgery-a population-based study[J]. Am J Ophthalmol, 2018, 193: 143-155. DOI: 10.1016/j.ajo.2018.06.010.
16. Mizuno R, Cavallaro T, Herbert J. Temporal expression of the transthyretin gene in the developing rat eye[J]. Invest Ophthalmol Vis Sci, 1992, 33(2): 341-349.
17. 林海燕,戴荣平. 转甲状腺素蛋白相关家族性淀粉样多神经病变的眼部表现[J]. 中华眼科杂志, 2017, 53(10): 783-785. DOI: 10.3760/cma.j.issn.0412-4081.2017.10.014.Lin HY, Dai RP. The ocular involvement in the transthyretin-related familial amyloid polyneuropathy[J]. Chin J Ophthalmol, 2017, 53(10): 783-785. DOI: 10.3760/cma.j.issn.0412-4081.2017.10.014.
18. Beirão NM, Matos E, Beirão I, et al. Recurrence of vitreous amyloidosis and need of surgical reintervention in portuguese patients with familial amyloidosis ATTR V30M[J]. Retina, 2011, 31(7): 1373-1377. DOI: 10.1097/IAE.0b013e318203c0c2.

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Long-term follow-up observation after vitrectomy in a family with vitreous amyloidosis due to transthyretin gene Gly83Arg mutation

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