Evidence map›Paper›PMID 39226063›Full record

ReviewTranslational vision science & technology2024

Seeing in Color: Inclusion and Characterization of Hereditary Eye Disease in African Americans.

Agnes C Owete, Raisa Ionin, Laryssa A Huryn, Catherine A Cukras, Delphine Blain, Aime R Agather, Robert B Hufnagel, Brian P Brooks, Kristen Nwanyanwu, Wadih M Zein

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Translational vision science & technology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

10 authors.

Agnes C OweteOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institute of Health, Bethesda, MD, USA.
Raisa IoninNational Institutes of Health Library, National Institutes of Health, Bethesda, MD, USA.
Laryssa A HurynOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institute of Health, Bethesda, MD, USA.
Catherine A CukrasOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institute of Health, Bethesda, MD, USA.
Delphine BlainOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institute of Health, Bethesda, MD, USA.
Aime R AgatherOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institute of Health, Bethesda, MD, USA.
Robert B HufnagelOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institute of Health, Bethesda, MD, USA.
Brian P BrooksOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institute of Health, Bethesda, MD, USA.
Kristen NwanyanwuDepartment of Ophthalmology and Visual Science, Yale School of Medicine, New Haven, CT, USA.
Wadih M ZeinOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institute of Health, Bethesda, MD, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Hereditary eye diseases (HEDs) are individually rare but affect millions globally. The era of molecular genetics has ushered major advances in the study of these disorders; however, the inclusivity and population diversity of this research is unknown. Questions on the accuracy and applicability of these findings in diverse populations, especially African American patients, came up consistently during counselling sessions. This also raised the possibility of missed opportunities for broader understanding of these rare diseases. We conducted a literature review to measure the representation of African Americans in genomic research surrounding nine HEDs. Methods: A detailed literature search using a predetermined set of search terms for each of nine HED categories was performed across PubMed, Embase, Web of Science, and Scopus focusing on studies published between Jan 1990 and July 2021. Predetermined inclusion criteria were applied to filter the sources. Results: We identified 46 studies clearly reporting HED characterization in African Americans. Analysis of these inclusive studies revealed unique findings demonstrating the known usefulness of including diverse cohorts in genomics research. Conclusions: HED characterization in diverse participants, specifically African Americans, is identified as a knowledge gap area. Genomic research is more applicable to patients when conducted in populations that share their ancestral background. Greater inclusion of African Americans in ophthalmic genetics research is a scientific imperative and a needed step in the pursuit of the best possible patient care for populations of all ancestries. Translational Relevance: This work reveals gaps in genomic research in African Americans with HEDs.

Indexed as

Black or African AmericanEye Diseases, HereditaryGenomicsHumans

Identifiers

PMID39226063
PMCPMC11373706

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.