A rare transthyretin mutation (Asp18Glu) associated with vitreous amyloid

Joel M. Solano; Jose S. Pulido; Diva R. Salomao

doi:10.1080/13816810701351347

A rare transthyretin mutation (Asp18Glu) associated with vitreous amyloid

Joel M. Solano, Jose S. Pulido, Diva R. Salomao

Ophthalmology

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

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.

Original language	English (US)
Pages (from-to)	73-75
Number of pages	3
Journal	Ophthalmic Genetics
Volume	28
Issue number	2
DOIs	https://doi.org/10.1080/13816810701351347
State	Published - Apr 2007

Keywords

Amyloid
Transthyretin (TTR) gene
Vitreous

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Ophthalmology
Genetics(clinical)

Access to Document

10.1080/13816810701351347

Cite this

@article{58be4a98b7894d8dbff63083dcda8903,

title = "A rare transthyretin mutation (Asp18Glu) associated with vitreous amyloid",

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.",

keywords = "Amyloid, Transthyretin (TTR) gene, Vitreous",

author = "Solano, {Joel M.} and Pulido, {Jose S.} and Salomao, {Diva R.}",

year = "2007",

month = apr,

doi = "10.1080/13816810701351347",

language = "English (US)",

volume = "28",

pages = "73--75",

journal = "Ophthalmic Genetics",

issn = "1381-6810",

publisher = "Informa Healthcare",

number = "2",

}

TY - JOUR

T1 - A rare transthyretin mutation (Asp18Glu) associated with vitreous amyloid

AU - Solano, Joel M.

AU - Pulido, Jose S.

AU - Salomao, Diva R.

PY - 2007/4

Y1 - 2007/4

N2 - 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.

AB - 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.

KW - Amyloid

KW - Transthyretin (TTR) gene

KW - Vitreous

UR - http://www.scopus.com/inward/record.url?scp=34250156397&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=34250156397&partnerID=8YFLogxK

U2 - 10.1080/13816810701351347

DO - 10.1080/13816810701351347

M3 - Article

C2 - 17558848

AN - SCOPUS:34250156397

SN - 1381-6810

VL - 28

SP - 73

EP - 75

JO - Ophthalmic Genetics

JF - Ophthalmic Genetics

IS - 2

ER -

A rare transthyretin mutation (Asp18Glu) associated with vitreous amyloid

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this