Evidence map›Paper›PMID 32856789›Full record

ArticleAmerican journal of medical genetics. Part C, Seminars in medical genetics2020

Ophthalmic genetics in South America.

Malena Daich Varela, Rene Moya, Patricio G Schlottmann, Robert B Hufnagel, Claudia Arberas, Federico M Fernández, M Eugenia Inga, Juliana Lores, Harry Pachajoa, Carlos E Prada and 1 more

Abstract read
In one paragraph

Article in American journal of medical genetics. Part C, Seminars in medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Introduction to the special issue on Ophthalmic Genetics: Vision in 2020.American journal of medical genetics. Part C, Seminars in medical genetics · 2020
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Malena Daich VarelaOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.ORCID 0000-0003-4960-4510
Rene MoyaDepartamento de Retina y Departamento de Genética Ocular, Hospital del Salvador, Universidad de Chile, Santiago, Chile.
Patricio G SchlottmannOphthalmology Department, Organización Médica de Investigación, Buenos Aires, Argentina.
Robert B HufnagelOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.ORCID 0000-0003-3015-3545
Claudia ArberasSección Genética Médica, Hospital de Niños "R. Gutiérrez", Buenos Aires, Argentina.
Federico M FernándezUniversity of Buenos Aires, Buenos Aires, Argentina.
M Eugenia IngaUniversity of Buenos Aires, Buenos Aires, Argentina.
Juliana LoresCentro de Investigaciones en Anomalías Congénitas y Enfermedades Raras Universidad Icesi, Cali, Colombia.ORCID 0000-0002-0679-4249
Harry PachajoaCentro de Investigaciones en Anomalías Congénitas y Enfermedades Raras Universidad Icesi, Cali, Colombia.
Carlos E PradaHospital Internacional de Colombia, Bucaramanga, Colombia.
Juliana M Ferraz SallumDepartment of Ophthalmology, Universidade Federal de São Paulo, Sao Paulo, Brazil.

Funding

Clinical ophthalmic molecular diagnostics and discoveryZIAEY000564 · NEI · NATIONAL EYE INSTITUTE · PI GUAN, BIN · 2019 to 2025
$7.9M
Ophthalmic Genetics FellowshipZIEEY000477 · NEI · NATIONAL EYE INSTITUTE · PI HURYN, LARYSSA · 2009 to 2025
$7.2M
Intramural NIH HHS Z99 EY999999Intramural NIH HHS ZIA EY000564
6 · The paper itself

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.

Indexed as

Precision MedicineEye Diseases, HereditaryHumansOphthalmologySouth Americadevelopmentgeneticsophthalmic geneticsophthalmologySouth America

Identifiers

PMID32856789
PMCPMC8808369

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.