Suppr超能文献

Elderly onset vitreous opacities as the initial manifestation in hereditary transthyretin (ATTR Val30Met) carries.

作者信息

Ishida Kyoko, Nishida Takashi, Niimi Yusuke, Suemori Shinsuke, Mochizuki Kiyofumi, Kawakami Hideaki, Kimura Akio, Hirayama Tetsuyuki

机构信息

a Department of Ophthalmology , Gifu University Graduate School of Medicine , Gifu , Japan.

b Department of Ophthalmology , Toho University Ohashi Medical Center , Tokyo , Japan.

出版信息

Ophthalmic Genet. 2017 Jul-Aug;38(4):387-391. doi: 10.1080/13816810.2016.1232413. Epub 2017 Jan 13.

Abstract

Familial amyloid polyneuropathy (FAP) is a systemic disorder transmitted as an autosomal dominant trait and is characterized by deposits of protein fibrils in various organs leading to physiologic dysfunction. In cases with FAP in Japanese endemic foci, their signs and symptoms often develop before the age of 40 years. We report on two elderly patients (an 80-year-old woman and an 83-year-old man) with progressive vitreous opacities (VOs) as the initial manifestation of hereditary transthyretin (ATTR Val30Met) carries, who had no evidence of systemic involvement or family history of amyloidosis and lived in non-endemic areas. Therapeutic vitrectomy with extensive vitreous removal combined with cataract surgery was performed. Clinicians should consider the possibility of hereditary transthyretin carries in cases presenting with VOs of undetermined etiology to avoid misdiagnosis.

摘要

相似文献

1
Elderly onset vitreous opacities as the initial manifestation in hereditary transthyretin (ATTR Val30Met) carries.
Ophthalmic Genet. 2017 Jul-Aug;38(4):387-391. doi: 10.1080/13816810.2016.1232413. Epub 2017 Jan 13.
2
Immunostaining images of vitreous transthyretin amyloid.
Can J Ophthalmol. 2015 Oct;50(5):384-7. doi: 10.1016/j.jcjo.2015.06.007.
3
Late-onset Transthyretin (TTR)-familial Amyloid Polyneuropathy (FAP) with a Long Disease Duration from Non-endemic Areas in Japan.
Intern Med. 2019 Mar 1;58(5):713-718. doi: 10.2169/internalmedicine.1457-18. Epub 2018 Oct 17.
4
A case of familial amyloid polyneuropathy due to Phe33Val TTR with vitreous involvement as the initial manifestation.
Intern Med. 2010;49(12):1213-6. doi: 10.2169/internalmedicine.49.3355. Epub 2010 Jun 15.
6
Vitreous opacities and outcome of vitreous surgery in patients with familial amyloidotic polyneuropathy.
Am J Ophthalmol. 2003 Feb;135(2):188-93. doi: 10.1016/s0002-9394(02)01838-x.
8
Diagnosis of sporadic transthyretin Val30Met familial amyloid polyneuropathy: a practical analysis.
Amyloid. 2011 Jun;18(2):53-62. doi: 10.3109/13506129.2011.565524. Epub 2011 Apr 5.

引用本文的文献

1
Secretion of transthyretin: molecular mechanisms dependent on the endoplasmic reticulum.
Front Physiol. 2025 Jul 1;16:1623185. doi: 10.3389/fphys.2025.1623185. eCollection 2025.
2
Ophthalmological manifestations of hereditary transthyretin amyloidosis.
Arq Bras Oftalmol. 2022 Sep-Oct;85(5):528-538. doi: 10.5935/0004-2749.20220099.
3
Ocular Involvement in Hereditary Amyloidosis.
Genes (Basel). 2021 Jun 22;12(7):955. doi: 10.3390/genes12070955.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验