ArticleProceedings of the National Academy of Sciences of the United States of America2000
Correction of ornithine accumulation prevents retinal degeneration in a mouse model of gyrate atrophy of the choroid and retina.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00001166 (The Diagnosis, Pathogenesis and Treatment of Gyrate Atrophy of the Choroid and Retina), which is not on this map. Cited by 30 papers.
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.
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.
The Diagnosis, Pathogenesis and Treatment of Gyrate Atrophy of the Choroid and Retina
Who cites it
30 citing papers in PubMed, 96 citations in OpenAlex.
- Article
- Gyrate atrophy of the choroid and retina: a tertiary center experience.Orphanet journal of rare diseases · 2026Article
- Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?Acta ophthalmologica · 2025Review
- Combinatorial gene therapy for gyrate atrophy of the choroid and retina.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Combined intraocular and intravenous gene delivery for therapy of gyrate atrophy of the choroid and retina.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Intraretinal variation in disease severity in the OatExperimental eye research · 2025Article
- Ocular Tissue-Specific Amino Acid Metabolism in Gyrate Atrophy.Advances in experimental medicine and biology · 2025Review
- A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR).Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2024Article
- Proteo-metabolomics and patient tumor slice experiments point to amino acid centrality for rewired mitochondria in fibrolamellar carcinoma.Cell reports. Medicine · 2024Article
- Biochemical Studies on Human Ornithine Aminotransferase Support a Cell-Based Enzyme Replacement Therapy in the Gyrate Atrophy of the Choroid and Retina.International journal of molecular sciences · 2024Article
- Vision on gyrate atrophy: why treat the eye?EMBO molecular medicine · 2024Article
- Modeling inherited retinal diseases using human induced pluripotent stem cell derived photoreceptor cells and retinal pigment epithelial cells.Frontiers in medicine · 2024Review
- Vision on gyrate atrophy: why treat the liver?EMBO molecular medicine · 2024Article
- Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy.Orphanet journal of rare diseases · 2023Article
- Proline provides a nitrogen source in the retinal pigment epithelium to synthesize and export amino acids for the neural retina.bioRxiv : the preprint server for biology · 2023Article
- Liver-directed gene therapy for ornithine aminotransferase deficiency.EMBO molecular medicine · 2023Article
- Evaluation of cell-cell interaction methods by integrating single-cell RNA sequencing data with spatial information.Genome biology · 2022Article
- CRISPR correction of the Finnish ornithine delta-aminotransferase mutation restores metabolic homeostasis in iPSC from patients with gyrate atrophy.Molecular genetics and metabolism reports · 2022Article
- Obscured interdigitation zone at the early stage of gyrate atrophy: A case report.American journal of ophthalmology case reports · 2022Article
- Proline metabolism and transport in retinal health and disease.Amino acids · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
Deficiency of ornithine-delta-aminotransferase (OAT) in humans results in gyrate atrophy of the choroid and retina (GA), an autosomal recessive disorder characterized by ornithine accumulation and a progressive chorioretinal degeneration of unknown pathogenesis. To determine whether chronic, systemic reduction of ornithine can prevent this form of retinal degeneration, we used an arginine-restricted diet to maintain long term reduction of ornithine in a mouse model of OAT-deficiency (Oat(-/-)) produced by gene targeting. We evaluated the mice over a 12-month period by measurement of plasma amino acids, electroretinograms, and retinal histologic and ultrastructural studies. We found that an arginine-restricted diet substantially reduces plasma ornithine levels and completely prevents retinal degeneration in Oat(-/-). This result indicates that ornithine accumulation is a necessary factor in the pathophysiology of the retinal degeneration in GA and that restoration of OAT activity in retina is not required for effective treatment of GA.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.