Literature DB >> 32856789

Ophthalmic genetics in South America.

Malena Daich Varela1,2, Rene Moya3, Patricio G Schlottmann4, Robert B Hufnagel1, Claudia Arberas5, Federico M Fernández2, M Eugenia Inga2, Juliana Lores6,7, Harry Pachajoa6,7, Carlos E Prada8,9,10, Juliana M Ferraz Sallum11,12.   

Abstract

South America comprises of heterogeneous topographies, populations, and health care systems. Therefore, it is not surprising to see differences among the countries regarding expertise, education, and practices of ophthalmic genetics for patients with rare eye diseases. Nevertheless, common challenges such as limited genetics training in medical schools and among ophthalmologists, scarcity of diagnostic tools for phenotyping, and expensive genetic testing not covered by the public healthcare systems, are seen in all of them. Here, we provide a detailed report of the current status of ophthalmic genetics, described by the personal views of local ophthalmologists from Brazil, Colombia, Argentina, and Chile. By reporting our strengths and weaknesses as a region, we intend to highlight the need for guidelines on how to manage these patients aligned with public health policies. Our region contributes to research worldwide, with thousands of well diagnosed patients from a number of unique and genetically diverse populations. The constant expansion of ophthalmic genetics and molecular diagnostics requires us to join forces to collaborate across South America and with other countries to improve access to next-generation diagnostics and ultimately improve patient care.
© 2020 Wiley Periodicals LLC.

Entities:  

Keywords:  South America; development; genetics; ophthalmic genetics; ophthalmology

Mesh:

Year:  2020        PMID: 32856789      PMCID: PMC8808369          DOI: 10.1002/ajmg.c.31832

Source DB:  PubMed          Journal:  Am J Med Genet C Semin Med Genet        ISSN: 1552-4868            Impact factor:   3.359


  42 in total

1.  The reality of disability: Multidimensional poverty of people with disability and their families in Latin America.

Authors:  Mónica Pinilla-Roncancio
Journal:  Disabil Health J       Date:  2017-12-30       Impact factor: 2.554

2.  A genomewide admixture mapping panel for Hispanic/Latino populations.

Authors:  Xianyun Mao; Abigail W Bigham; Rui Mei; Gerardo Gutierrez; Ken M Weiss; Tom D Brutsaert; Fabiola Leon-Velarde; Lorna G Moore; Enrique Vargas; Paul M McKeigue; Mark D Shriver; Esteban J Parra
Journal:  Am J Hum Genet       Date:  2007-04-20       Impact factor: 11.025

Review 3.  Ocular genetics in Taiwan.

Authors:  Yu-Hung Lai; Kwou-Yeung Wu
Journal:  Curr Opin Ophthalmol       Date:  2017-09       Impact factor: 3.761

4.  [An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals].

Authors:  Diana Sanabria; Helena Groot; Julio Guzmán; María Claudia Lattig
Journal:  Biomedica       Date:  2012-06       Impact factor: 0.935

Review 5.  [Medical specialization in Chile. A centralized vision].

Authors:  Diego E Clouet-Huerta; Bárbara González; Katherine Correa
Journal:  Rev Med Chil       Date:  2017-11       Impact factor: 0.553

6.  ECLAMC: the Latin-American collaborative study of congenital malformations.

Authors:  Eduardo E Castilla; Iêda M Orioli
Journal:  Community Genet       Date:  2004

7.  Description of Bogotá Birth Defects Surveillance and Follow-up Program.

Authors:  Ignacio Zarante; Karen Sarmiento; C Mallarino; G Gracia
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8.  Screening program for Waardenburg syndrome in Colombia: clinical definition and phenotypic variability.

Authors:  Marta L Tamayo; Nancy Gelvez; Marcela Rodriguez; Silvia Florez; Clara Varon; David Medina; Jaime E Bernal
Journal:  Am J Med Genet A       Date:  2008-04-15       Impact factor: 2.802

9.  Genomic Insights into the Ancestry and Demographic History of South America.

Authors:  Julian R Homburger; Andrés Moreno-Estrada; Christopher R Gignoux; Dominic Nelson; Elena Sanchez; Patricia Ortiz-Tello; Bernardo A Pons-Estel; Eduardo Acevedo-Vasquez; Pedro Miranda; Carl D Langefeld; Simon Gravel; Marta E Alarcón-Riquelme; Carlos D Bustamante
Journal:  PLoS Genet       Date:  2015-12-04       Impact factor: 5.917

10.  Ocular findings in Fabry disease in Colombian patients

Authors:  Katherine Rothstein; Jubby M Gálvez; Ángela M Gutiérrez; Laura Rico; Eveling Criollo; Alejandra De-la-Torre
Journal:  Biomedica       Date:  2019-09-01       Impact factor: 0.935

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  1 in total

1.  Introduction to the special issue on Ophthalmic Genetics: Vision in 2020.

Authors:  Robert B Hufnagel; Michael A Walter; Gavin Arno
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-08-31       Impact factor: 3.359

  1 in total

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