ArticleCornea2009
Keratoconus associated with corneal stromal amyloid deposition containing TGFBIp.
Article in Cornea, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
What it found
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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
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Systematically Displaying the Pathogenesis of KeratoconusFrontiers in medicine · 2021Pooled it
- Association of 2 Lysyl Oxidase Gene Single Nucleotide Polymorphisms with Keratoconus: A Nationwide Registration Study.Ophthalmology science · 2023Article
- Potential underlying genetic associations between keratoconus and diabetes mellitus.Advances in ophthalmology practice and research · 2021Article
- Three novel variants identified within ECM-related genes in Chinese Han keratoconus patients.Scientific reports · 2020Article
- Collagen fiber changes related to keratoconus with secondary corneal amyloidosis.International medical case reports journal · 2018Article
- Genetics in Keratoconus: where are we?Eye and vision (London, England) · 2016Review
- Quercetin attenuates lactate production and extracellular matrix secretion in keratoconus.Scientific reports · 2015Article
- Keratoconus in vitro and the key players of the TGF-β pathway.Molecular vision · 2015Article
- Findings of secondary corneal amyloidosis with ultrahigh-resolution optical coherence tomography.Clinical ophthalmology (Auckland, N.Z.) · 2014Article
- Article
- Abnormal regulation of extracellular matrix and adhesion molecules in corneas of patients with keratoconus.International journal of keratoconus and ectatic corneal diseasesArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
purposeTo report the identification and characterization of stromal amyloid deposits in patients with keratoconus.
methodsThe excised corneal buttons from 2 patients diagnosed clinically with keratoconus underwent histochemical analysis with Masson trichrome, Congo red, Alcian blue, and periodic acid-Schiff stains, and immunohistochemical analysis for the transforming growth factor beta-induced gene (TGFBI) protein product (TGFBIp), prealbumin, lysozyme, and kappa and lambda light chain expression. After the collection of DNA from both patients, exons 4, 11, 12, 13 and 14 of TGFBI were amplified and sequenced to search for mutations previously associated with dystrophic corneal stromal amyloid deposition.
resultsLight microscopic examination of the corneal buttons revealed stromal thinning, epithelial basement membrane abnormalities, and focal disruption of Bowman layer. Multiple stromal deposits were identified that stained red with Masson trichrome, pink with periodic acid-Schiff, and red with Congo red; the Congo red-stained deposits demonstrated birefringence and dichroism with crossed polarizing lenses. Immunohistochemical staining demonstrated reactivity of the stromal deposits with antibodies to TGFBIp but no reactivity with antibodies against prealbumin, lysozyme, or kappa and lambda light chains. Screening of TGFBI exons 4, 11, 12, 13, and 14 revealed 2 previously identified single nucleotide polymorphisms present in the heterozygous state in both individuals but no other coding region variants.
conclusionsTwo cases of keratoconus with clinically unsuspected, presumed secondary stromal amyloid deposition are described. Although TGFBIp is identified in the stromal deposits, no previously reported amyloidogenic mutations are identified in TGFBI in either affected individual, indicating a previously undescribed mechanism of stromal amyloid deposition.
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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.