Case Report: Hereditary transthyretin (ATTRv) amyloidosis: The p.G103R mutation of the transthyretin gene in a Han Chinese family is associated with vitreous hemorrhage
Hereditary transthyretin (ATTRv) amyloidosis is a rare disease caused by transthyretin gene (TTR) mutation. We identified that the p.G103R mutation of the TTR gene in a Han Chinese family was associated with vitreous hemorrhage. The proband was a 48-year-old woman who had progressive visual impairme...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2022-09-01
|
| Series: | Frontiers in Genetics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.972501/full |
| _version_ | 1797995323238383616 |
|---|---|
| author | Junhui Shen Hao Yu Jijian Lin Li Zhang Xiaohong Pan Zhiqing Chen |
| author_facet | Junhui Shen Hao Yu Jijian Lin Li Zhang Xiaohong Pan Zhiqing Chen |
| author_sort | Junhui Shen |
| collection | DOAJ |
| description | Hereditary transthyretin (ATTRv) amyloidosis is a rare disease caused by transthyretin gene (TTR) mutation. We identified that the p.G103R mutation of the TTR gene in a Han Chinese family was associated with vitreous hemorrhage. The proband was a 48-year-old woman who had progressive visual impairment in both eyes for 12 years. A Glass wool–like posterior vitreous cortex attached to the posterior retinal surface of both eyes was found using ocular coherence tomography. Visual acuity improved after the first vitrectomy. Two years later, the patient underwent two more vitrectomies because of vitreous opacity recrudescence. Four years later, she presented with vitreous hemorrhage in the right eye. The vitreous fluids acquired during the vitrectomy showed increased vascular endothelial growth factor, basic fibroblast growth factor, interleukin-6, interleukin-10, vascular cell adhesion molecule, and interleukin-8. Mutation sequencing revealed a heterozygous mutation in nucleotide c.307G > C (p.G103R) in exon 3 of the TTR gene in the proband (IV-13), her daughter (IV-9), and her fourth sister (III-11). To our knowledge, this is the first case of ATTRv amyloidosis caused by a p.G103R mutation of the TTR gene associated with vitreous hemorrhage in China. |
| first_indexed | 2024-04-11T09:59:51Z |
| format | Article |
| id | doaj.art-b421ebb56c4d495db0ed41ce8952928b |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-04-11T09:59:51Z |
| publishDate | 2022-09-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-b421ebb56c4d495db0ed41ce8952928b2022-12-22T04:30:27ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-09-011310.3389/fgene.2022.972501972501Case Report: Hereditary transthyretin (ATTRv) amyloidosis: The p.G103R mutation of the transthyretin gene in a Han Chinese family is associated with vitreous hemorrhageJunhui Shen0Hao Yu1Jijian Lin2Li Zhang3Xiaohong Pan4Zhiqing Chen5Eye Center, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, ChinaDepartment of Neurology and Department of Medical Genetics in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, ChinaEye Center, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, ChinaEye Center, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, ChinaDepartment of Cardiology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, ChinaEye Center, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, ChinaHereditary transthyretin (ATTRv) amyloidosis is a rare disease caused by transthyretin gene (TTR) mutation. We identified that the p.G103R mutation of the TTR gene in a Han Chinese family was associated with vitreous hemorrhage. The proband was a 48-year-old woman who had progressive visual impairment in both eyes for 12 years. A Glass wool–like posterior vitreous cortex attached to the posterior retinal surface of both eyes was found using ocular coherence tomography. Visual acuity improved after the first vitrectomy. Two years later, the patient underwent two more vitrectomies because of vitreous opacity recrudescence. Four years later, she presented with vitreous hemorrhage in the right eye. The vitreous fluids acquired during the vitrectomy showed increased vascular endothelial growth factor, basic fibroblast growth factor, interleukin-6, interleukin-10, vascular cell adhesion molecule, and interleukin-8. Mutation sequencing revealed a heterozygous mutation in nucleotide c.307G > C (p.G103R) in exon 3 of the TTR gene in the proband (IV-13), her daughter (IV-9), and her fourth sister (III-11). To our knowledge, this is the first case of ATTRv amyloidosis caused by a p.G103R mutation of the TTR gene associated with vitreous hemorrhage in China.https://www.frontiersin.org/articles/10.3389/fgene.2022.972501/fullhereditary transthyretin (ATTRv) amyloidosistransthyretin genemutationvitreous opacityvitreous hemorrhage |
| spellingShingle | Junhui Shen Hao Yu Jijian Lin Li Zhang Xiaohong Pan Zhiqing Chen Case Report: Hereditary transthyretin (ATTRv) amyloidosis: The p.G103R mutation of the transthyretin gene in a Han Chinese family is associated with vitreous hemorrhage Frontiers in Genetics hereditary transthyretin (ATTRv) amyloidosis transthyretin gene mutation vitreous opacity vitreous hemorrhage |
| title | Case Report: Hereditary transthyretin (ATTRv) amyloidosis: The p.G103R mutation of the transthyretin gene in a Han Chinese family is associated with vitreous hemorrhage |
| title_full | Case Report: Hereditary transthyretin (ATTRv) amyloidosis: The p.G103R mutation of the transthyretin gene in a Han Chinese family is associated with vitreous hemorrhage |
| title_fullStr | Case Report: Hereditary transthyretin (ATTRv) amyloidosis: The p.G103R mutation of the transthyretin gene in a Han Chinese family is associated with vitreous hemorrhage |
| title_full_unstemmed | Case Report: Hereditary transthyretin (ATTRv) amyloidosis: The p.G103R mutation of the transthyretin gene in a Han Chinese family is associated with vitreous hemorrhage |
| title_short | Case Report: Hereditary transthyretin (ATTRv) amyloidosis: The p.G103R mutation of the transthyretin gene in a Han Chinese family is associated with vitreous hemorrhage |
| title_sort | case report hereditary transthyretin attrv amyloidosis the p g103r mutation of the transthyretin gene in a han chinese family is associated with vitreous hemorrhage |
| topic | hereditary transthyretin (ATTRv) amyloidosis transthyretin gene mutation vitreous opacity vitreous hemorrhage |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.972501/full |
| work_keys_str_mv | AT junhuishen casereporthereditarytransthyretinattrvamyloidosisthepg103rmutationofthetransthyretingeneinahanchinesefamilyisassociatedwithvitreoushemorrhage AT haoyu casereporthereditarytransthyretinattrvamyloidosisthepg103rmutationofthetransthyretingeneinahanchinesefamilyisassociatedwithvitreoushemorrhage AT jijianlin casereporthereditarytransthyretinattrvamyloidosisthepg103rmutationofthetransthyretingeneinahanchinesefamilyisassociatedwithvitreoushemorrhage AT lizhang casereporthereditarytransthyretinattrvamyloidosisthepg103rmutationofthetransthyretingeneinahanchinesefamilyisassociatedwithvitreoushemorrhage AT xiaohongpan casereporthereditarytransthyretinattrvamyloidosisthepg103rmutationofthetransthyretingeneinahanchinesefamilyisassociatedwithvitreoushemorrhage AT zhiqingchen casereporthereditarytransthyretinattrvamyloidosisthepg103rmutationofthetransthyretingeneinahanchinesefamilyisassociatedwithvitreoushemorrhage |