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Cited by 34Corneal surgery and disordersConnective tissue disorders researchCorneal Surgery and Treatments

The Structural Role of Elastic Fibers in the Cornea Investigated Using a Mouse Model for Marfan Syndrome

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White, Tomas L., Lewis, Philip, Hayes, Sally, Fergusson, James, Bell, James, Farinha, Luis, White, Nick S., Pereira, Lygia V. +1 more·2017·Investigative Opthalmology & Visual Science
DOI 10.1167/iovs.16-21358PMC PMC5695733
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Abstract

Purpose: The presence of fibrillin-rich elastic fibers in the cornea has been overlooked in recent years. The aim of the current study was to elucidate their functional role using a mouse model for Marfan syndrome, defective in fibrillin-1, the major structural component of the microfibril bundles that constitute most of the elastic fibers. Methods: Mouse corneas were obtained from animals with a heterozygous fibrillin-1 mutation (Fbn1+/-) and compared to wild type controls. Corneal thickness and radius of curvature were calculated using optical coherence tomography microscopy. Elastic microfibril bundles were quantified and visualized in three-dimensions using serial block face scanning electron microscopy. Transmission electron microscopy was used to analyze stromal ultrastructure and proteoglycan distribution. Center-to-center average interfibrillar spacing was determined using x-ray scattering. Results: Fbn1+/- corneas were significantly thinner than wild types and displayed a higher radius of curvature. In the Fbn1+/- corneas, elastic microfibril bundles were significantly reduced in density and disorganized compared to wild-type controls, in addition to containing a higher average center-to-center collagen interfibrillar spacing in the center of the cornea. No other differences were detected in stromal ultrastructure or proteoglycan distribution between the two groups. Proteoglycan side chains appeared to colocalize with the microfibril bundles. Conclusions: Elastic fibers have an important, multifunctional role in the cornea as highlighted by the differences observed between Fbn1+/- and wild type animals. We contend that the presence of normal quantities of structurally organized elastic fibers are required to maintain the correct geometry of the cornea, which is disrupted in Marfan syndrome.

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Authors
White, T. L., Lewis, P., Hayes, S., Fergusson, J., Bell, J., Farinha, L., White, N. S., Pereira, L. V., & Meek, K. M.
Affiliations
  • Cardiff University (GB)
  • Department of Genetics and Evolutionary Biology, University of São Paulo, Rua do Matão, São Paulo, Brazil
  • Universidade de São Paulo (BR)
Corresponding author
Meek, Keith M.
ORCID
Venue
Investigative Opthalmology & Visual Science
Publisher
Association for Research in Vision and Ophthalmology (ARVO)
Published
2017-04-10
Volume
58
Issue
4
Pages
2106
ISSN
  • 0146-0404 (ISSN-L)
  • 1552-5783
DOI
10.1167/iovs.16-21358
PMC
PMC5695733
OpenAlex
W2606735570
Cited by
34
References
0
Citations by year
2026: 2 · 2025: 2 · 2024: 4 · 2023: 4 · 2022: 1 · 2021: 5 · 2020: 4 · 2019: 3 · 2018: 7 · 2017: 2
FWCI
3.25
Type
journal article
Language
en
Open access
Licence
Locations
  • Investigative Ophthalmology & Visual Science (publishedVersion, cc-by)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
Funders
  • Diamond Light Source
  • Cardiff University
  • Fundação de Amparo à Pesquisa do Estado de São Paulo
  • Medical Research Council (MR/K000837/1)
Topics
  • Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Corneal surgery and disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
  • Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Corneal Surgery and Treatments
Keywords
elastic fibers, cornea, Marfan syndrome, fibrillin-1, corneal thickness, corneal radius of curvature, corneal stroma, proteoglycans, corneal biomechanics
MeSH terms
Fibrillin-1, Animals, Cornea, Disease Models, Animal, DNA, DNA Mutational Analysis, Elastic Tissue, Marfan Syndrome, Mice, Mutant Strains, Microscopy, Electron, Scanning, Mutation, Microfibrils, Tomography, Optical Coherence, Microscopy, Electron, Transmission, Mice, Adipokines

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