Evidence map›Paper›PMID 29376197›Full record

ArticleGraefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie2018

Mitochondrial A3243G mutation results in corneal endothelial polymegathism.

Mathieu F Bakhoum, Wei-Pu Wu, Eugenia C White, Jesse D Sengillo, Christian Sanfilippo, Marcelle M Morcos, K Bailey Freund, Henry D Perry, David Sarraf, Stephen H Tsang

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Review
  2. Review
  3. Rare Phenotypic Manifestations of MELAS.Yonsei medical journal · 2020
    Article
  4. Polymegathism as a biomarker of mitochondrial disorders.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2018
    Article
  5. Mitochondrial A3243G mutation results in corneal endothelial polymegathism.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2018
    Article
  6. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors.

Mathieu F BakhoumJonas Children's Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory, Columbia University, New York, NY, USA.
Wei-Pu WuJonas Children's Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory, Columbia University, New York, NY, USA.
Eugenia C WhiteJonas Children's Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory, Columbia University, New York, NY, USA.
Jesse D SengilloJonas Children's Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory, Columbia University, New York, NY, USA.
Christian SanfilippoStein Eye Institute, Department of Ophthalmology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Marcelle M MorcosDepartment of Ophthalmology, Nassau University Medical Center, East Meadow, NY, USA.
K Bailey FreundDepartment of Ophthalmology, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Henry D PerryDepartment of Ophthalmology, Nassau University Medical Center, East Meadow, NY, USA.
David SarrafStein Eye Institute, Department of Ophthalmology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Stephen H TsangJonas Children's Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory, Columbia University, New York, NY, USA. sht2@cumc.columbia.edu.

Funding

Tumor Biology and Microenvironment ProgramP30CA013696 · NCI · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI Parisa Tehranifar · 1985 to 2026
$115.3M
Instrumentation, Fabrication, and Design CoreP30EY019007 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Xin Zhang · 2010 to 2026
$12.9M
Translational Gene Therapy for CNGB1 Retinitis PigmentosaR24EY027285 · NEI · MICHIGAN STATE UNIVERSITY · PI HAUSWIRTH, WILLIAM W, MICHALAKIS, STYLIANOS · 2018 to 2022
$8.6M
Toward mechanism- and gene-based therapies for retinal degenerationR01EY018213 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Stephen H Tsang · 2008 to 2026
$6.6M
Gene Silencing and Gene Editing in PhototransductionR01EY024698 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Stephen H Tsang · 2015 to 2026
$4.7M
Mechanistic Studies on Regenerative Medicine Approaches to Childhood BlindnessR01EY026682 · NEI · UNIVERSITY OF IOWA · PI BASSUK, ALEXANDER G, MAHAJAN, VINIT B · 2016 to 2019
$1.6M
Precision genome surgery in autologous stem cell transplantU01EY030580 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SPARROW, JANET RUTHE, TSANG, STEPHEN H · 2019 to 2020
$810k
Evaluating GWAS AMD Candidate Loci by Gene Editing in Human iPS CellsR21AG050437 · NIA · UNIVERSITY OF IOWA · PI BASSUK, ALEXANDER G, MAHAJAN, VINIT B · 2015 to 2016
$431k
NCI NIH HHS P30 CA013696NEI NIH HHS P30 EY019007NEI NIH HHS R01 EY018213NEI NIH HHS R01 EY024698NEI NIH HHS R01 EY026682NEI NIH HHS R24 EY027285NEI NIH HHS U01 EY030580NIA NIH HHS R21 AG050437
6 · The paper itself

Abstract

purposeThe mitochondrial DNA point mutation A3243G leads to a spectrum of syndromes ranging from MIDD to MELAS. Ocular manifestations include pattern macular dystrophy and concentric perifoveal atrophy. Given the high metabolic demand of corneal endothelial cells, we performed specular biomicroscopy analysis in patients harboring the mitochondrial DNA point mutation A3243G to assess for the associated presence of corneal endothelial abnormalities.

methodsWe present a case series with participants from two institutions. Patients diagnosed with macular dystrophy associated with MIDD or MELAS, and the mitochondrial DNA point mutation A3243G were recruited. Exclusion criteria included a prior diagnosis, or a positive family history, of endothelial corneal dystrophy. Slit-lamp corneal examination and specular biomicroscopy were performed. Corneal endothelial cell count, cell size and polymegathism, and central corneal thickness were assessed. Patients diagnosed with MIDD or MELAS based on clinical history and examination were genetically tested for the mitochondrial DNA point mutation A3243G using pyrosequencing.

resultsFive patients (two male and three female participants) from five different families, and with different ethnic backgrounds, met the inclusion criteria. Their ages ranged from 41 to 60 years. Corneal endothelial changes observed using slit-lamp examination were primarily mild to rare guttata. Specular biomicroscopy displayed mainly polymegathism associated with guttata. The average endothelial cell count was 2358 ± 456 cells per mm

conclusionsIn patients with the mitochondrial DNA point mutation A3243G, corneal endothelial polymegathism is present. This is mainly associated with mild guttata. The findings of corneal endothelial cell polymegathism may be a biomarker of mitochondrial disease, specifically in patients with the mitochondrial DNA A3243G mutation.

Indexed as

Point MutationDNA, MitochondrialDNA Mutational AnalysisEpithelium, CornealHumansIridocorneal Endothelial SyndromeMicroscopy, AcousticMitochondrial DiseasesReverse Transcriptase Polymerase Chain ReactionDNA, MitochondrialEndothelial corneal dystrophyGeneticsMitochondrial diseasesRetinal dystrophySpecular microscopy

Identifiers

PMID29376197
PMCPMC6777962

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Registered trials

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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.