Evidence map›Paper›PMID 33869891›Full record

ArticleAmerican journal of ophthalmology case reports2021

Ptosis, ophthalmoplegia and corneal endothelial disease - ocular manifestations of mitochondrial disease.

Elizabeth M McElnea, Zelda S Pick, Aoife C Smyth, Louis J Stevenson, Penny A McKelvie, Michael S Loughnan, Alan A McNab

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

Article in American journal of ophthalmology case reports, 2021. 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
0.1field-weighted citation impact, top 58% 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, 3 citations in OpenAlex.

  1. Article
  2. Dual diagnosis ofRare (Amsterdam, Netherlands) · 2024
    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

7 authors at 3 institutions in 1 country.

Elizabeth M McElneaDepartment of Orbit, Plastic and Lacrimal Surgery, Royal Victorian Eye and Ear Hospital, 32 Gisborne Street, East Melbourne, Victoria, Australia.
Zelda S PickDepartment of Orbit, Plastic and Lacrimal Surgery, Royal Victorian Eye and Ear Hospital, 32 Gisborne Street, East Melbourne, Victoria, Australia.
Aoife C SmythDepartment of Orbit, Plastic and Lacrimal Surgery, Royal Victorian Eye and Ear Hospital, 32 Gisborne Street, East Melbourne, Victoria, Australia.
Louis J StevensonDepartment of Orbit, Plastic and Lacrimal Surgery, Royal Victorian Eye and Ear Hospital, 32 Gisborne Street, East Melbourne, Victoria, Australia.
Penny A McKelvieDepartment of Anatomical Pathology, St Vincent's Hospital, 41 Victoria Parade, Fitzroy, Victoria, Australia.
Michael S LoughnanEye Surgery Consultants, 100 Victoria Parade, East Melbourne, Victoria, Australia.
Alan A McNabDepartment of Orbit, Plastic and Lacrimal Surgery, Royal Victorian Eye and Ear Hospital, 32 Gisborne Street, East Melbourne, Victoria, Australia.
The Royal Victorian Eye & Ear Hospital · AUSt Vincent's Hospital Melbourne · AUThe Royal Melbourne Hospital · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeTo describe two patients with bilateral ptosis, ophthalmoplegia, cataracts and corneal endothelial disease requiring corneal transplantation. OBSERVATIONS: Histopathological analysis of muscle biopsy samples from both patients identified features consistent with a mitochondrial cytopathy. A single multigenic mitochondrial deoxyribonucleic acid (DNA) deletion was detected in the first patient. Pathogenic mutations in the POLG gene which codes for mitochondrial DNA polymerase, tasked with replicating the mitochondrial genome were identified in the second patient.

conclusionThe collection of clinical features present in both cases described can be explained by a diagnosis of mitochondrial disease. IMPORTANCE: Corneal endothelial disease, in addition to ptosis, ophthalmoplegia, cataract, pigmentary retinopathy and optic atrophy should be recognised as a feature of mitochondrial disease.

Indexed as

ATP, Adenosine triphosphateCHED, Congenital hereditary endothelial dystrophyCorneal endothelial diseaseCOX, Cytochrome oxidaseCPEO, Chronic progressive external ophthalmoplegiaDNA, Deoxyribonucleic acidDSAEK, Descemet's stripping automated endothelial keratoplastyFECD, Fuchs endothelial corneal dystrophyLF, Levator palpebrae superioris functionMELAS syndrome, Mitochondrial myopathy, encephalopathy, lactic acidosis and strokeMitochondrial diseaseMRD1, Margin reflex 1 distanceMT-ATP6, Mitochondrially encoded adenosine triphosphate synthase membrane subunit 6MT-TP, Mitochondrially encoded transfer ribonucleic acid prolineOphthalmoplegiaPtosisRNA, Ribonucleic acidSDH, Succinic dehydrogenaseTRNA, Transfer ribonucleic acid

Identifiers

PMID33869891
PMCPMC8041719
OpenAlexW3136088550

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.