ReviewJournal of inherited metabolic disease2003
The eye as a window to inborn errors of metabolism.
Review in Journal of inherited metabolic disease, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
8 citing papers in PubMed, 34 citations in OpenAlex.
- Association of multimorbidity and its patterns with risk of mortality among the elderly in Shenzhen, China.BMC geriatrics · 2026Article
- A noninvasive model for chronic kidney disease screening and common pathological type identification from retinal images.Nature communications · 2025Article
- Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes.Molecular genetics and metabolism · 2022Review
- Beyond the Liver: Liver-Eye Communication in Clinical and Experimental Aspects.Frontiers in molecular biosciences · 2021Review
- The protean ocular involvement in monogenic autoinflammatory diseases: state of the art.Clinical rheumatology · 2015Review
- The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.Journal of inherited metabolic disease · 2015Review
- [Mucopolysaccharidoses].Der Orthopade · 2008Article
- Retinitis pigmentosa in mevalonate kinase deficiency.Journal of inherited metabolic disease · 2005Article
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 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ocular manifestations in inborn errors of metabolism occur in many diseases and may be associated with any part of all eye components. In a minority of diseases it is possible to attribute the eye symptoms to a single hereditary pathogenetic mechanism. More often the aetiological relationship of the ocular defects to the metabolic disease is unknown. Diverse pathogenetic mechanisms may act via a common pathological pathway inducing ocular damage. The occurrence of eye abnormalities in metabolic disorders suggests that they are associated with direct toxic actions, errors of synthetic pathways or deficient energy metabolism. In this review, metabolic disorders with major abnormalities in the cornea, lens, retina and optic nerve are presented. In all cases, an appropriate combined approach by the ophthalmologist, paediatrician/neurologist, geneticist and clinical biochemist is the only way to diagnostic success.
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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.