ReviewGenes2021
Ocular Involvement in Hereditary Amyloidosis.
Review in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 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
41 citing papers in PubMed, 67 citations in OpenAlex.
- Unilateral vitreous amyloidosis as the presenting feature of hereditary transthyretin amyloidosis (TTR p.Val50Met): a case report and focused literature review.BMC ophthalmology · 2026Review
- Disease modifying treatment of hereditary transthyretin amyloidosis with polyneuropathy in Germany - expert consensus of the German society of amyloid diseases (DGAK) and the German neurological society (DGN).Neurological research and practice · 2026Review
- Transthyretin Amyloidosis-From Peculiar Neuropathy to a Treatable Chronic Multisystemic Disease.Genes · 2026Review
- Intraocular amyloidosis presenting with secondary glaucoma: a clinical-pathologic report and literature review.American journal of ophthalmology case reports · 2026Article
- Primary oculoleptomeningeal transthyretin amyloidosis with subarachnoid hemorrhages, visual loss, and heart and skin amyloid deposits.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Ophthalmological Manifestations of Hereditary Amyloidosis due to Transthyretin: A Systematic Review.Journal of ophthalmology · 2026Review
- Renal gelsolin amyloidosis as a rare cause of proteinuria: a case report and literature review.BMC nephrology · 2025Review
- A new screening tool for early recognition of ATTRv polyneuropathy in clinical practice: AmyloScanJournal of neurology · 2025Article
- Modulation of TTR gene expression in the eye using modified siRNAs.Nucleic acids research · 2025Article
- Long-term follow-up of retinal amyloid angiopathy in a large Chinese family with hereditary amyloid transthyretin.BMC ophthalmology · 2025Article
- TTR Gene Screening Since the Advent of Biotherapies in France: A Nationwide Retrospective Survey Between 2018 and 2023.European journal of neurology · 2025Article
- Hereditary vitreoretinal amyloidosis with transthyretin Gly83Arg variant, a long-term study.Eye (London, England) · 2025Article
- Secretion of transthyretin: molecular mechanisms dependent on the endoplasmic reticulum.Frontiers in physiology · 2025Review
- Vitreous amyloidosis caused by Lys55Asn mutation in TTR with peripheral neuropathy onset: a case report of FAP-related complications.International journal of ophthalmology · 2025Article
- Clinical analysis of 37 Chinese patients with ocular amyloidosis: a single center study.BMC ophthalmology · 2024Article
- Advancing Transthyretin Amyloidosis Drug Development in an Evolving Treatment Landscape: Amyloidosis Forum Meeting Proceedings.Advances in therapy · 2024Review
- Development of Benziodarone Analogues with Enhanced Potency for Selective Binding to Transthyretin in Human Plasma.Journal of medicinal chemistry · 2024Article
- Genetic Aspects of Glaucoma: An Updated Review.Current molecular medicine · 2024Review
- Serum neurofilament light chain: a promising early diagnostic biomarker for hereditary transthyretin amyloidosis?European journal of neurology · 2024Article
- Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal.Orphanet journal of rare diseases · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The term amyloidosis describes a group of rare diseases caused by protein conformation abnormalities resulting in extracellular deposition and accumulation of insoluble fibrillar aggregates. So far, 36 amyloid precursor proteins have been identified, and each one is responsible for a specific disease entity. Transthyretin amyloidosis (ATTRv) is one of the most common forms of systemic and ocular amyloidosis, due to the deposition of transthyretin (TTR), which is a transport protein mainly synthesized in the liver but also in the retinal pigment epithelial cells. ATTRv amyloidosis may be misdiagnosed with several other conditions, resulting in a significant diagnostic delay. Gelsolin and keratoepithelin are other proteins that, when mutated, are responsible for a systemic amyloid disease with significant ocular manifestations that not infrequently appear before systemic involvement. The main signs of ocular amyloid deposition are in the cornea, irido-corneal angle and vitreous, causing complications related to vasculopathy and neuropathy at the local level. This review aims at describing the main biochemical, histopathological and clinical features of systemic amyloidosis associated with eye involvement, with particular emphasis on the inherited forms. We discuss currently available treatments, focusing on ocular involvement and specific ophthalmologic management and highlighting the importance of a prompt treatment for the potential sight-threatening complications derived from amyloid deposition in ocular tissues.
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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.