Evidence map›Paper›PMID 31814698›Full record

ArticleMolecular vision2019

Case report: North Carolina macular dystrophy misdiagnosed as congenital ocular toxoplasmosis.

Moktika Tandon, Christopher Barnett, Deepa Taranath

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

Article in Molecular vision, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.5field-weighted citation impact, top 37% 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

2 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. A novel tandem duplication of PRDM13 in a Chinese family with North Carolina macular dystrophy.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2022
    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

3 authors at 1 institution in 1 country.

Moktika TandonDepartment of Ophthalmology, The Women's and Children's Hospital, Adelaide, South Australia, Australia.
Christopher BarnettDepartment of Ophthalmology, The Women's and Children's Hospital, Adelaide, South Australia, Australia.
Deepa TaranathDepartment of Ophthalmology, The Women's and Children's Hospital, Adelaide, South Australia, Australia.
Women's and Children's Hospital · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: This report discusses a case of North Carolina macular dystrophy (NCMD) in a 7-year-old boy initially diagnosed as congenital toxoplasmosis. Genetic testing was performed on the child and his family after the suspicion of NCMD was raised by the treating ophthalmologist. This case report highlights the similarities between congenital toxoplasmosis and NCMD. Methods: DNA was collected from the family with consent and underwent comparative genomic hybridization and Sanger sequencing. Results: Genetic testing identified a previously reported single base substitution (chromosome 6: 99,593,111 (G>C) NC_000006.11(GRCh38):g.100040987G>C), which confirms a diagnosis of NCMD. Conclusions: We believe this is the first confirmed case of NCMD in Australia. This case highlights the similarities between NCMD and more commonly recognized conditions, such as ocular toxoplasmosis, and raises the question; How many other cases are misdiagnosed as ocular toxoplasmosis?

Indexed as

Child, PreschoolCorneal Dystrophies, HereditaryDiagnostic ErrorsFundus OculiHumansMaleToxoplasmosis, Ocular

Identifiers

PMID31814698
PMCPMC6857771
OpenAlexW2996671827

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.