一种与玻璃体淀粉样变性相关的罕见甲状腺素运载蛋白突变（Asp18Glu）。

A rare transthyretin mutation (Asp18Glu) associated with vitreous amyloid.

作者信息

Solano Joel M, Pulido Jose S, Salomao Diva R

机构信息

Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota 55905, USA.

出版信息

Ophthalmic Genet. 2007 Jun;28(2):73-5. doi: 10.1080/13816810701351347.

DOI:10.1080/13816810701351347

PMID:17558848

Abstract

Amyloidosis is a term to describe extracellular deposition of insoluble beta-fibrillar proteins. Here we describe a patient who was confirmed to have amyloidosis after right heart biopsy and was found to have DNA change 114T > A (codon change D18E). Ophthalmic examination showed increasing vitreous sheet-like opacities in the left eye and she subsequently underwent vitrectomy. The vitrectomy specimen was confirmed to have amyloid involvement. To our knowledge this is the first report of vitreous involvement of a patient with the Asp18Glu mutation of the transthyretin (TTR) gene with DNA change 114T > A.

摘要

淀粉样变性是一个用于描述不溶性β-纤维状蛋白细胞外沉积的术语。在此，我们描述了一名患者，其经右心活检确诊为淀粉样变性，并发现存在DNA改变114T>A（密码子改变D18E）。眼科检查显示左眼玻璃体片状混浊加重，随后她接受了玻璃体切除术。玻璃体切除标本被证实有淀粉样物质累及。据我们所知，这是首例关于转甲状腺素蛋白（TTR）基因发生114T>A的Asp18Glu突变患者玻璃体受累的报告。