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Authordc.contributor.authorDaich Varela, Malena 
Authordc.contributor.authorMoya Behrens, René 
Authordc.contributor.authorSchlottmann, Patricio G. 
Authordc.contributor.authorHufnagel, Robert B. 
Authordc.contributor.authorArberas, Claudia 
Authordc.contributor.authorFernández, Federico M. 
Authordc.contributor.authorInga, M. Eugenia 
Authordc.contributor.authorLores, Juliana 
Authordc.contributor.authorPachajoa, Harry 
Authordc.contributor.authorPrada, Carlos E. 
Authordc.contributor.authorFerraz Sallum, Juliana M. 
Admission datedc.date.accessioned2020-11-11T21:51:25Z
Available datedc.date.available2020-11-11T21:51:25Z
Publication datedc.date.issued2020
Cita de ítemdc.identifier.citationAm J Med Genet. 2020;184C:753–761.es_ES
Identifierdc.identifier.other10.1002/ajmg.c.31832
Identifierdc.identifier.urihttps://repositorio.uchile.cl/handle/2250/177660
Abstractdc.description.abstractSouth 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.es_ES
Patrocinadordc.description.sponsorshipNEI Intramural Fundses_ES
Lenguagedc.language.isoenes_ES
Publisherdc.publisherWileyes_ES
Type of licensedc.rightsAttribution-NonCommercial-NoDerivs 3.0 Chile*
Link to Licensedc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/cl/*
Sourcedc.sourceAmerican Journal of Medical Geneticses_ES
Keywordsdc.subjectDevelopmentes_ES
Keywordsdc.subjectGeneticses_ES
Keywordsdc.subjectOphthalmologyes_ES
Keywordsdc.subjectOphthalmic geneticses_ES
Keywordsdc.subjectSouth Americaes_ES
Títulodc.titleOphthalmic genetics in South America Malenaes_ES
Document typedc.typeArtículo de revistaes_ES
dcterms.accessRightsdcterms.accessRightsAcceso Abierto
Catalogueruchile.catalogadorctces_ES
Indexationuchile.indexArtículo de publicación ISI
Indexationuchile.indexArtículo de publicación SCOPUS


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Attribution-NonCommercial-NoDerivs 3.0 Chile
Except where otherwise noted, this item's license is described as Attribution-NonCommercial-NoDerivs 3.0 Chile