Evidence map›Paper›PMID 38719268›Full record

ArticleBMJ case reports2024

Macular corneal dystrophy with iridofundal coloboma in the same patient: a unique combination.

Noopur Gupta, Arnav Panigrahi, Neerja Gupta, Seema Sen

Abstract readCase Reports
In one paragraph

Article in BMJ case reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

4 authors.

Noopur Gupta *Ophthalmology, All India Institute of Medical Sciences, New Delhi, India.ORCID http://orcid.org/0000-0001-8022-6656
Arnav Panigrahi *Ophthalmology, All India Institute of Medical Sciences, New Delhi, India arnav.888panigrahi@gmail.com.ORCID http://orcid.org/0000-0002-0036-3624
Neerja GuptaMedical Genetics, All India Institute of Medical Sciences, New Delhi, India.
Seema SenOcular Pathology, All India Institute of Medical Sciences, New Delhi, India.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A young a presented with painless, progressive diminution of vision in both eyes (BE). Slit lamp examination revealed the presence of a single central corneal opacity in the right eye and multiple corneal opacities of varying sizes in the left eye (LE), limited to the anterior-mid corneal stroma. Microcornea with reduced central corneal thickness and complete inferonasal iris coloboma along with inferior fundal coloboma, sparing both the disc and macula, were noted in BE. A diagnosis of BE macular corneal dystrophy (MCD) and iridofundal coloboma (IFC) was made. The patient underwent LE sutureless anterior lamellar therapeutic keratoplasty. On histopathological examination, the excised corneal tissue revealed stromal lamellar disarray with positive colloidal iron staining, strongly suggestive of MCD. Whole-exome sequencing revealed the presence of a likely pathogenic carbohydrate sulfotransferase 6 (

Indexed as

ColobomaCorneal Dystrophies, HereditaryCarbohydrate SulfotransferasesCorneaCorneal OpacityCorneal TransplantationHumansIrisMaleSulfotransferasesCarbohydrate SulfotransferasesSulfotransferasesAnterior chamberRetina

Identifiers

PMID38719268
PMCPMC11085980

What OpenQuestion holds

Textmetadata
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.