Evidence map›Paper›PMID 36578800›Full record

ArticleAmerican journal of ophthalmology case reports2023

Dent disease presenting with nyctalopia and electroretinographic correlates of vitamin A deficiency.

Justin J Arnett, Alexa Li, Shaden H Yassin, Robin Miller, Lori Taylor, Caitlin E Carter, Katayoon Shayan-Tabrizi, Shyamanga Borooah

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of ophthalmology case reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
0.2field-weighted citation impact, top 50% 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

1 citing paper in PubMed, 1 synthesis or guideline pooled it, 2 citations in OpenAlex.

  1. Dent disease: clinical practice recommendations.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2025
    Guideline
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

8 authors at 2 institutions in 1 country.

Justin J ArnettViterbi Department of Ophthalmology, Shiley Eye Institute, University of California, San Diego, 9415 Campus Point Drive, La Jolla, CA, 92093, USA.
Alexa LiViterbi Department of Ophthalmology, Shiley Eye Institute, University of California, San Diego, 9415 Campus Point Drive, La Jolla, CA, 92093, USA.
Shaden H YassinViterbi Department of Ophthalmology, Shiley Eye Institute, University of California, San Diego, 9415 Campus Point Drive, La Jolla, CA, 92093, USA.
Robin MillerDivision of Pediatric Nephrology, Rady Children's Hospital San Diego, 3020 Children's Way, San Diego, CA, 92123, USA.
Lori TaylorCoast Pediatrics, Del Mar, 12845 Pointe Del Mar, Suite 200, Del Mar, CA, 92014, USA.
Caitlin E CarterDivision of Pediatric Nephrology, Rady Children's Hospital San Diego, 3020 Children's Way, San Diego, CA, 92123, USA.
Katayoon Shayan-TabriziDepartment of Pediatric Pathology, Rady Children's Hospital San Diego, 3020 Children's Way, San Diego, CA, 92123, USA.
Shyamanga BorooahViterbi Department of Ophthalmology, Shiley Eye Institute, University of California, San Diego, 9415 Campus Point Drive, La Jolla, CA, 92093, USA.
University of California San Diego · USRady Children's Hospital-San Diego · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: To report a unique case of Dent Disease presenting with nyctalopia associated with vitamin A deficiency and abnormal electroretinogram findings without prior systemic symptomatology. Observations: A 16-year-old male presented with a several month history of nyctalopia and peripheral vision deficits. Central visual acuity, anterior and posterior segment examinations, and macular optical coherence tomography were unremarkable. Electroretinogram (ERG) testing revealed a rod-cone dystrophic pattern, with further workup demonstrating serum vitamin A deficiency (VAD). Laboratory evaluation revealed renal dysfunction and proteinuria with a significantly elevated urinary retinol-binding protein (RBP). Kidney biopsy showed glomerular and tubular disease.Genetic screening for inherited renal disease was performed identifying a hemizygous pathogenic variant c.2152C>T (p.Arg718*) in the Conclusions and Importance: To our knowledge, this is the first case in the literature describing Dent disease solely presenting with ophthalmic symptoms of nyctalopia and abnormal electroretinogram findings that later reversed with vitamin A repletion. This case stresses the importance for clinicians to consider renal tubular disorders in the differential for VAD.

Indexed as

Dent diseaseNyctalopiaRetinol binding proteinVitamin A deficiency

Identifiers

PMID36578800
PMCPMC9791604
OpenAlexW4313311830

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.