Clinical characteristics and complications after vitrectomy in patients with vitreous amyloidosis from three Han nationality families_Chinese Journal of Ocular Fundus Diseases

Authors：

Feng Yanbing ¹ ,  Weng Wenqing ¹ , He Yanyan ¹ , Ma Zhenyi ² , Shi Yanbo ³ , Wu Yibo ¹ , Zhu Yixing ⁴ , Shen Zhixin ¹

1. Department of Ophthalmology, Zhejiang Chinese Medical University Affiliated Jiaxing TCM Hospital, Jiaxing Eye Hospital, Jiaxing 314000, China;
2. Department of Pathology, Zhejiang Chinese Medical University Affiliated Jiaxing TCM Hospital, Jiaxing 314000, China;
3. Department of Central laboratory, Zhejiang Chinese Medical University Affiliated Jiaxing TCM Hospital, Jiaxing Key Laboratory of Diabetic Angiopathy Research, Jiaxing 314000, China;
4. The Third Clinical Medical College of Zhejiang University of Traditional Chinese Medicine, Hangzhou 310053, China;

Corresponding author：

Weng Wenqing, Email: wengwenq@163.com

Keywords：

Amyloidosis; Prealbumin; Vitrectomy; Postoperative complications

DOI：

10.3760/cma.j.cn511434-20201116-00554

Video：

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Objective To observe the clinical characteristics of patients with familial vitreous amyloidosis (FVA) and the efficacy of vitrectomy (PPV) and the occurrence of complications. Methods A retrospective clinical study. From June 2009 to March 2020, 32 eyes of 18 patients from 3 FVA families who were diagnosed and treated by PPV at Department of Ophthalmology of Jiaxing TCM Hospital were included in the study. Among them, there were 12 males with 22 eyes and 6 females with 10 eyes. The average age of onset was 42.28±3.25 years; the average duration of disease was 3.75±3.93 years. All the affected eyes underwent best corrected visual acuity (BCVA) and B-mode ultrasound examination. A logarithmic visual acuity chart was used in the BCVA examination, which was converted to the logarithmic minimum angle of resolution (logMAR) visual acuity when recorded. The average logMAR BCVA of the affected eye was 1.72±0.53; the intraocular pressure was less than 21 mm Hg (1 mm Hg=0.133 kPa). The vitreous body of the affected eye was obviously cloudy. All the affected eyes underwent standard three-channel PPV through the flat part of the ciliary body, and vitreous specimens were collected for pathological examination during the operation. Peripheral venous blood of probands from 3 families was collected, and the whole exome gene sequencing was performed. The follow-up time after surgery was ≥6 months. The patient's clinical characteristics, fundus lesions in PPV, changes in BCVA after surgery, and complications was observed. One-way analysis of variance or t test was performed for measurement data comparison; χ² test was performed for count data comparison. Results The vitreous body of the affected eye showed gray-white dense and thick flocculent changes, and the posterior capsule attached to the lens showed "foot disc-like" turbidity; later the lens was mainly cystic opacity. Pathological examination of the vitreous body showed positive staining of Congo red; under a polarized light microscope, it showed apple green dots and sheet-like birefringence. The genetic test results showed that there was a c.307G>C (p.Gly103Arg) missense mutation in the TTR gene of the proband in Family 2. Peripheral retinal hemorrhages in 4 eyes (12.5%, 4/32), retinal tears in 5 eyes (15.6%, 5/32), retinal degeneration in 4 eyes (12.5%, 4/32), retinal detachment were found in PPV 3 eyes (9.4%, 3/32). The vitreous body was filled with C₃F₈ and silicone oil respectively for 2, 1 eye. Six months after the operation, the logMAR BCVA of the affected eye was 0.39±0.32, which was significantly higher than that before the operation, and the difference was statistically significant (t=15.131, P=0.000). After the operation, high intraocular pressure occurred in 2 eyes (6.3%, 2/32), secondary glaucoma in 1 eye (3.1%, 1/32), retinal detachment in 2 eyes (6.3%, 2/32), neovascular glaucoma (NVG) in 2 eyes (6.3%, 2/32), cataract in 10 eyes (31.3%, 10/32). Conclusion The vitreous body of FVA eyes are gray-white dense, thick and flocculent, attached to the posterior lens capsule, showing "foot disc-like" turbidity; PPV treatment can effectively improve the BCVA of the FVA eyes; secondary glaucoma, secondary retinal detachment, NVG can occur after surgery.

Citation： Feng Yanbing, Weng Wenqing, He Yanyan, Ma Zhenyi, Shi Yanbo, Wu Yibo, Zhu Yixing, Shen Zhixin. Clinical characteristics and complications after vitrectomy in patients with vitreous amyloidosis from three Han nationality families. Chinese Journal of Ocular Fundus Diseases, 2021, 37(11): 865-871. doi: 10.3760/cma.j.cn511434-20201116-00554 Copy

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2.	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.
3.	Adams D, Ando Y, Beirão JM, et al. Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy[J]. J Neurol, 2021, 268(6): 2109-2122. DOI: 10.1007/s00415-019-09688-0.
4.	Yin J, Xia X, Shi Y, et al. Chinese familial transthyretin amyloidosis with vitreous involvement is associated with the transthyretin mutation Gly83Arg: a case report and literature review[J]. Amyloid, 2014, 21(2): 140-142. DOI: 10.3109/13506129.2014.892871.
5.	Ran LX, Zheng ZY, Xie B, et al. A mouse model of a novel missense mutation (Gly83Arg) in a Chinese kindred manifesting vitreous amyloidosis only[J]. Exp Eye Res, 2018, 169: 13-19. DOI: 10.1016/j.exer.2018.01.017.
6.	Zhang AM, Wang H, Sun P, et al. Mutation p. G83R in the transthyretin gene is associated with hereditary vitreous amyloidosis in Han Chinese families[J]. Mol Vis, 2013, 19: 1631-1638.
7.	Kakihara S, Hirano T, Imai A, et al. Small gauge vitrectomy for vitreous amyloidosis and subsequent management of secondary glaucoma in patients with hereditary transthyretin amyloidosis[J/OL]. Sci Rep, 2020, 10(1): 5574[2020-03-27]. https://pubmed.ncbi.nlm.nih.gov/32221479/. DOI: 10.1038/s41598-020-62559-x.
8.	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.
9.	谢兵, 蔡善君, 郑志涌. 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.issn.1005-1015.2016.03.021.Xie B, Cai SJ, Zheng ZY. Familial vitreous amyloidosis thyroid hormone binding protein Gly83Arg mutant family[J]. Chin J Ocul Fundus Dis, 2016, 32(3): 312-314. DOI: 10.3760/cma.j.issn.1005-1015.2016.03.021.
10.	Dammacco R, Merlini G, Lisch W, et al. Amyloidosis and ocular involvement: an overview[J]. Semin Ophthalmol, 2020, 35(1): 7-26. DOI: 10.1080/08820538.2019.1687738.
11.	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.
12.	谢渊, 赵艳, 周建奖, 等. 一个遗传性玻璃体淀粉样变性家系TTR基因的突变检测[J]. 中华医学遗传学杂志, 2012, 29(1): 13-15. DOI: 10.3760/cma.j.issn.1003-9406.2012.01.004.Xie Y, Zhao Y, Zhou JJ, et al. Identification of a TTR gene mutation in a family with hereditary vitreous amyloidosis[J]. Chin J Med Genet, 2012, 29(1): 13-15. DOI: 10.3760/cma.j.issn.1003-9406.2012.01.004.
13.	Beirão JM, Malheiro J, Lemos C, et al. Impact of liver transplantation on the natural history of oculopathy in portuguese patients with transthyretin (V30M) amyloidosis[J]. Amyloid, 2015, 22(1): 31-35. DOI: 10.3109/13506129.2014.989318.
14.	Marques JH, Coelho J, Malheiro J, et al. Subclinical retinal angiopathy associated with hereditary transthyretin amyloidosis-assessed with optical coherence tomography angiography[J]. Amyloid, 2020, 28(1): 66-71. DOI: 10.1080/13506129.2020.1827381.
15.	O'Hearn TM, Fawzi A, He S, et al. Early onset vitreous amyloidosis in familial amyloidotic polyneuropathy with a transthyretin Glu54Gly mutation is associated with elevated vitreous VEGF[J]. Br J Ophthalmol, 2007, 91(12): 1607-1609. DOI: 10.1136/bjo.2007.119495.

1. Reynolds MM, Veverka KK, Gertz MA, et al. Ocular manifestations of familial transthyretinamyloidosis[J]. Am J Ophthalmol, 2017, 183: 156-162. DOI: 10.1016/j.ajo.2017.09.001.
2. 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.
3. Adams D, Ando Y, Beirão JM, et al. Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy[J]. J Neurol, 2021, 268(6): 2109-2122. DOI: 10.1007/s00415-019-09688-0.
4. Yin J, Xia X, Shi Y, et al. Chinese familial transthyretin amyloidosis with vitreous involvement is associated with the transthyretin mutation Gly83Arg: a case report and literature review[J]. Amyloid, 2014, 21(2): 140-142. DOI: 10.3109/13506129.2014.892871.
5. Ran LX, Zheng ZY, Xie B, et al. A mouse model of a novel missense mutation (Gly83Arg) in a Chinese kindred manifesting vitreous amyloidosis only[J]. Exp Eye Res, 2018, 169: 13-19. DOI: 10.1016/j.exer.2018.01.017.
6. Zhang AM, Wang H, Sun P, et al. Mutation p. G83R in the transthyretin gene is associated with hereditary vitreous amyloidosis in Han Chinese families[J]. Mol Vis, 2013, 19: 1631-1638.
7. Kakihara S, Hirano T, Imai A, et al. Small gauge vitrectomy for vitreous amyloidosis and subsequent management of secondary glaucoma in patients with hereditary transthyretin amyloidosis[J/OL]. Sci Rep, 2020, 10(1): 5574[2020-03-27]. https://pubmed.ncbi.nlm.nih.gov/32221479/. DOI: 10.1038/s41598-020-62559-x.
8. 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.
9. 谢兵, 蔡善君, 郑志涌. 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.issn.1005-1015.2016.03.021.Xie B, Cai SJ, Zheng ZY. Familial vitreous amyloidosis thyroid hormone binding protein Gly83Arg mutant family[J]. Chin J Ocul Fundus Dis, 2016, 32(3): 312-314. DOI: 10.3760/cma.j.issn.1005-1015.2016.03.021.
10. Dammacco R, Merlini G, Lisch W, et al. Amyloidosis and ocular involvement: an overview[J]. Semin Ophthalmol, 2020, 35(1): 7-26. DOI: 10.1080/08820538.2019.1687738.
11. 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.
12. 谢渊, 赵艳, 周建奖, 等. 一个遗传性玻璃体淀粉样变性家系TTR基因的突变检测[J]. 中华医学遗传学杂志, 2012, 29(1): 13-15. DOI: 10.3760/cma.j.issn.1003-9406.2012.01.004.Xie Y, Zhao Y, Zhou JJ, et al. Identification of a TTR gene mutation in a family with hereditary vitreous amyloidosis[J]. Chin J Med Genet, 2012, 29(1): 13-15. DOI: 10.3760/cma.j.issn.1003-9406.2012.01.004.
13. Beirão JM, Malheiro J, Lemos C, et al. Impact of liver transplantation on the natural history of oculopathy in portuguese patients with transthyretin (V30M) amyloidosis[J]. Amyloid, 2015, 22(1): 31-35. DOI: 10.3109/13506129.2014.989318.
14. Marques JH, Coelho J, Malheiro J, et al. Subclinical retinal angiopathy associated with hereditary transthyretin amyloidosis-assessed with optical coherence tomography angiography[J]. Amyloid, 2020, 28(1): 66-71. DOI: 10.1080/13506129.2020.1827381.
15. O'Hearn TM, Fawzi A, He S, et al. Early onset vitreous amyloidosis in familial amyloidotic polyneuropathy with a transthyretin Glu54Gly mutation is associated with elevated vitreous VEGF[J]. Br J Ophthalmol, 2007, 91(12): 1607-1609. DOI: 10.1136/bjo.2007.119495.

Chinese Journal of Ocular Fundus Diseases

Clinical characteristics and complications after vitrectomy in patients with vitreous amyloidosis from three Han nationality families

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