Evidence map›Paper›PMID 35227579›Full record

ReviewMolecular genetics and metabolism2022

Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes.

Alejandro Garanto, Carlos R Ferreira, Camiel J F Boon, Clara D M van Karnebeek, Nenad Blau

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Molecular genetics and metabolism, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing 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

11 citing papers in PubMed.

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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

5 authors.

Alejandro GarantoDepartment of Pediatrics, Amalia Children's Hospital Radboud Center for Mitochondrial and Metabolic Diseases, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address: alex.garanto@radboudumc.nl.
Carlos R FerreiraNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: carlos.ferreira@nih.gov.
Camiel J F BoonDepartment of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands and Amsterdam University Medical Centers, Academic Medical Center, Department of Ophthalmology, University of Amsterdam, Amsterdam, the Netherlands. Electronic address: camiel.boon@amsterdamumc.nl.
Clara D M van KarnebeekDepartment of Pediatrics, Amalia Children's Hospital Radboud Center for Mitochondrial and Metabolic Diseases, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands; Departments of Pediatrics and Human Genetics, Emma Children's Hospital, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, Amsterdam, the Netherlands. Electronic address: c.d.vankarnebeek@amsterdamumc.nl.
Nenad BlauDivision of Metabolism, University Children's Hospital, Zürich, Switzerland. Electronic address: nenad.blau@kispi.uzh.ch.

Funding

Intramural NIH HHS Z99 HG999999
6 · The paper itself

Abstract

Ocular manifestations are observed in approximately one third of all inherited metabolic disorders (IMDs). Although ocular involvement is not life-threatening, it can result in severe vision loss, thereby leading to an additional burden for the patient. Retinal degeneration with or without optic atrophy is the most frequent phenotype, followed by oculomotor problems, involvement of the cornea and lens, and refractive errors. These phenotypes can provide valuable clues that contribute to its diagnosis. In this issue we found 577 relevant IMDs leading to ophthalmologic manifestations. This article is the seventh of a series attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement.

Indexed as

Metabolic DiseasesRetinal DegenerationHumansPhenotypeVision DisordersEyeIEMbaseInborn errors of metabolismInherited metabolic disordersOcular phenotypesOphthalmologicOptic atrophyRetina

Identifiers

PMID35227579
PMCPMC10518078

What OpenQuestion holds

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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.