Vitreous involvement as initial presentation of hereditary transthyretin amyloidosis related to the rare TTR Ile107Met (p.Ile127Met) pathogenic variant-Reference-Cited by-同舟云学术

Vitreous involvement as initial presentation of hereditary transthyretin amyloidosis related to the rare TTR Ile107Met (p.Ile127Met) pathogenic variant

Published:2022-01-17 Issue:3 Volume:43 Page:413-419
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Treviño-Herrera Alan Baltazar¹²^ORCID,Bustamante-Vargas Ana Patricia¹^ORCID,Lisker-Cervantes Andrés¹³^ORCID,Ríos Y Valles Valles Dolores¹⁴^ORCID,Villanueva-Mendoza Cristina¹⁵^ORCID,González-Duarte Alejandra⁶^ORCID,Concha-Del-Río Luz Elena¹²^ORCID

Affiliation:

1. Inflammatory Eye Disease Clinic, Asociación Para Evitar La Ceguera En México, México City, México

2. Inflammatory Eye Disease Clinic, Asociación Para Evitar La Ceguera En México, Mexico

3. Retina and Vitreous Department, Asociación Para Evitar La Ceguera En México, Mexico City, Mexico

4. Pathology Department, Asociación Para Evitar La Ceguera En México, Mexico City, Mexico

5. Genetics Department, Asociación Para Evitar La Ceguera En México, Mexico City, Mexico

6. Neurology and Psychiatry Department, Instituto Nacional de Ciencias Médicas Y Nutrición Salvador Zubirán, Mexico City, Mexico

Funder

financial

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2022.2025606

Reference33 articles.

1. Familial amyloid polyneuropathy

2. Amyloid nomenclature 2018: recommendations by the International Society of Amyloidosis (ISA) nomenclature committee

3. Amyloid nomenclature 2020: update and recommendations by the International Society of Amyloidosis (ISA) nomenclature committee

4. Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy