Evidence map›Paper›PMID 36339947›Full record

ArticleOphthalmology science2023

Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia.

Volha V Malechka, Dat Duong, Keyla D Bordonada, Amy Turriff, Delphine Blain, Elizabeth Murphy, Wendy J Introne, Bernadette R Gochuico, David R Adams, Wadih M Zein and 4 more

Open access · goldAbstract read
In one paragraph

Article in Ophthalmology science, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.5field-weighted citation impact, top 20% of its field
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

8 citing papers in PubMed, 13 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Artificial intelligence in clinical genetics.European journal of human genetics : EJHG · 2025
    Review
  5. Article
  6. Article
  7. Generative Methods for Pediatric Genetics Education.medRxiv : the preprint server for health sciences · 2023
    Article
  8. 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

14 authors at 2 institutions in 1 country.

Volha V MalechkaOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.
Dat DuongMedical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland.
Keyla D BordonadaOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.
Amy TurriffOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.
Delphine BlainOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.
Elizabeth MurphyOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.
Wendy J IntroneMedical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland.
Bernadette R GochuicoMedical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland.
David R AdamsMedical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland.
Wadih M ZeinOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.
Brian P BrooksOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.
Laryssa A HurynOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.
Benjamin D SolomonMedical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland.
Robert B HufnagelOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.
National Institutes of Health · USNational Human Genome Research Institute · US

Funding

Human Biochemical GeneticsZIAHG000215 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2009 to 2025
$72.6M
Understanding the pathogenesis of and identifying treatments for albinismZIAEY000470 · NEI · NATIONAL EYE INSTITUTE · PI BROOKS, BRIAN · 2009 to 2025
$12.6M
Clinical ophthalmic molecular diagnostics and discoveryZIAEY000564 · NEI · NATIONAL EYE INSTITUTE · PI GUAN, BIN · 2019 to 2025
$7.9M
6 · The paper itself

Abstract

Purpose: To describe the relationships between foveal structure and visual function in a cohort of individuals with foveal hypoplasia (FH) and to estimate FH grade and visual acuity using a deep learning classifier. Design: Retrospective cohort study and experimental study. Participants: A total of 201 patients with FH were evaluated at the National Eye Institute from 2004 to 2018. Methods: Structural components of foveal OCT scans and corresponding clinical data were analyzed to assess their contributions to visual acuity. To automate FH scoring and visual acuity correlations, we evaluated the following 3 inputs for training a neural network predictor: (1) OCT scans, (2) OCT scans and metadata, and (3) real OCT scans and fake OCT scans created from a generative adversarial network. Main Outcome Measures: The relationships between visual acuity outcomes and determinants, such as foveal morphology, nystagmus, and refractive error. Results: The mean subject age was 24.4 years (range, 1-73 years; standard deviation = 18.25 years) at the time of OCT imaging. The mean best-corrected visual acuity (n = 398 eyes) was equivalent to a logarithm of the minimal angle of resolution (LogMAR) value of 0.75 (Snellen 20/115). Spherical equivalent refractive error (SER) ranged from -20.25 diopters (D) to +13.63 D with a median of +0.50 D. The presence of nystagmus and a high-LogMAR value showed a statistically significant relationship ( Conclusions: Nystagmus and foveal anatomy impact visual outcomes in patients with FH, and computational algorithms reliably estimate FH grading and visual acuity.

Indexed as

BCVA, best-corrected visual acuityCHS, Chediak–Higashi syndromeD, dioptersFH, foveal hypoplasiaFoveal hypoplasiaGAN, generative adversarial networkGenerative adversarial networkHPS, Hermansky–Pudlak syndromeLogMAR, logarithm of the minimal angle of resolutionNEI, National Eye InstituteNeural network classifierNystagmusOCTPAX6, Paired Box 6 geneSER, spherical equivalent refractive errorWAGR, Wilms tumor-aniridia-genital anomalies-retardation syndrome

Identifiers

PMID36339947
PMCPMC9634033
OpenAlexW4297183115

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

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.