Evidence map›Paper›PMID 40192087›Full record

ReviewActa ophthalmologica2025

Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?

Mark J N Buijs, Berith M Balfoort, Marion M Brands, Anneloor L M A Ten Asbroek, Camiel J F Boon, Roselie M H Diederen, Corrie Timmer, Margreet A E M Wagenmakers, Hans R Waterham, Ronald J A Wanders and 3 more

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Acta ophthalmologica, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Review
  3. 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

13 authors.

Mark J N BuijsDepartment of Human Genetics, Section Ophthalmogenetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.ORCID https://orcid.org/0000-0002-4972-9797
Berith M BalfoortDepartment of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.ORCID https://orcid.org/0000-0002-6999-044X
Marion M BrandsDepartment of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Anneloor L M A Ten AsbroekDepartment of Human Genetics, Section Ophthalmogenetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Camiel J F BoonDepartment of Ophthalmology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.ORCID https://orcid.org/0000-0002-6737-7932
Roselie M H DiederenDepartment of Ophthalmology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.ORCID https://orcid.org/0000-0001-9708-2898
Corrie TimmerDepartment Endocrinology and Metabolism Amsterdam UMC, Department of Nutrition and Dietetics, Amsterdam University Medical Centers, Amsterdam, The Netherlands.
Margreet A E M WagenmakersDepartment of Internal Medicine, Centre for Lysosomal and Metabolic Diseases, Erasmus MC, Erasmus University Medical Centre Rotterdam, Rotterdam, The Netherlands.
Hans R WaterhamLaboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Ronald J A WandersLaboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Riekelt H HoutkooperLaboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Clara D van KarnebeekDepartment of Human Genetics, Section Ophthalmogenetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Arthur A BergenDepartment of Human Genetics, Section Ophthalmogenetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

Funding

Emma Children Hospital Support Foundation GrantStichting MetakidsStichting voor OoglijdersStichting Zeldzame Ziekten FondsThe Horstingstuit Foundation
6 · The paper itself

Abstract

Gyrate atrophy of the choroid and retina (GACR; OMIM #258870) is a rare early-onset autosomal recessive disorder, caused by bi-allelic pathogenic variants in the gene coding for ornithine aminotransferase (OAT) resulting in hyperornithinaemia. Clinically, GACR is characterized by the concentric loss of visual fields due to progressive chorioretinal atrophy. Because OAT is systemically expressed, it is not clear why primarily the retina is damaged in GACR patients. In this review, we first provide an extensive overview of the clinical features and current treatment modalities for GACR. Next, we discuss the different pathways involved in ornithine metabolism, including the urea cycle, polyamine synthesis, creatine synthesis, proline synthesis and degradation and provide our vision on how OAT deficiency is thought to affect these pathways in the retinal pigment epithelium (RPE). We provide several hypotheses to explain the retinal pathology observed in GACR and discuss perspectives on future research.

Indexed as

Gyrate AtrophyOrnithine-Oxo-Acid TransaminaseRetinaRetinal Pigment EpitheliumHumansOrnithine-Oxo-Acid Transaminasegyrate atrophyinherited metabolic disorderOATornithineretinal degeneration

Identifiers

PMID40192087
PMCPMC12531614

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.