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Keywords = ciliary zonule

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20 pages, 2645 KB  
Review
The Ocular Surface and the Anterior Segment of the Eye in the Pseudoexfoliation Syndrome: A Comprehensive Review
by Maya Natasha Thomas, Piotr Skopiński, Harry Roberts and Małgorzata Woronkowicz
Int. J. Mol. Sci. 2025, 26(2), 532; https://doi.org/10.3390/ijms26020532 - 10 Jan 2025
Cited by 3 | Viewed by 2773
Abstract
Pseudoexfoliation syndrome (PXS) is an age-related fibrillopathy where fibrillar exfoliation material accumulates and deposits in ocular and extra-ocular tissue. Within the eye, this substance accumulates on the ocular surface and in the anterior segment of the eye, impacting ocular structures such as the [...] Read more.
Pseudoexfoliation syndrome (PXS) is an age-related fibrillopathy where fibrillar exfoliation material accumulates and deposits in ocular and extra-ocular tissue. Within the eye, this substance accumulates on the ocular surface and in the anterior segment of the eye, impacting ocular structures such as the conjunctiva, Tenon’s capsule, sclera, cornea, iris, ciliary body, trabecular meshwork, and lens. This review aims to collate the current literature on how each anatomical part of the eye is affected by PXS, with a strong focus on molecular changes. We also summarise the current understanding of the key genetic factors influencing the development of PXS. Full article
(This article belongs to the Section Molecular Pathology, Diagnostics, and Therapeutics)
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17 pages, 1804 KB  
Review
Zonulopathies as Genetic Disorders of the Extracellular Matrix
by Chimwemwe Chipeta, Jose Aragon-Martin and Aman Chandra
Genes 2024, 15(12), 1632; https://doi.org/10.3390/genes15121632 - 20 Dec 2024
Viewed by 1467
Abstract
The zonular fibres are formed primarily of fibrillin-1, a large extracellular matrix (ECM) glycoprotein, and also contain other constituents such as LTBP-2, ADAMTSL6, MFAP-2 and EMILIN-1, amongst others. They are critical for sight, holding the crystalline lens in place and being necessary for [...] Read more.
The zonular fibres are formed primarily of fibrillin-1, a large extracellular matrix (ECM) glycoprotein, and also contain other constituents such as LTBP-2, ADAMTSL6, MFAP-2 and EMILIN-1, amongst others. They are critical for sight, holding the crystalline lens in place and being necessary for accommodation. Zonulopathies refer to conditions in which there is a lack or disruption of zonular support to the lens and may clinically be manifested as ectopia lens (EL)—defined as subluxation of the lens outside of the pupillary plane or frank displacement (dislocation) into the vitreous or anterior segment. Genes implicated in EL include those intimately involved in the formation and function of these glycoproteins as well as other genes involved in the extracellular matrix (ECM). As such, genetic pathogenic variants causing EL are primarily disorders of the ECM, causing zonular weakness by (1) directly affecting the protein components of the zonule, (2) affecting proteins involved in the regulation of zonular formation and (3) causing the dysregulation of ECM components leading to progressive zonular weakness. Herein, we discuss the clinical manifestations of zonulopathy and the underlying pathogenetic mechanisms. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
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18 pages, 3233 KB  
Review
The Biomechanics of Fibrillin Microfibrils: Lessons from the Ciliary Zonule
by Pooja Rathaur, Juan Rodriguez, John Kuchtey, Samuel Insignares, Wendell B. Jones, Rachel W. Kuchtey and Steven Bassnett
Cells 2024, 13(24), 2097; https://doi.org/10.3390/cells13242097 - 18 Dec 2024
Cited by 3 | Viewed by 1502
Abstract
Marfan syndrome is an inherited connective tissue disorder that affects the cardiovascular, musculoskeletal, and ocular systems. It is caused by pathogenic variants in the fibrillin-1 gene (FBN1). Fibrillin is a primary component of microfibrils, which are found throughout the extracellular matrix [...] Read more.
Marfan syndrome is an inherited connective tissue disorder that affects the cardiovascular, musculoskeletal, and ocular systems. It is caused by pathogenic variants in the fibrillin-1 gene (FBN1). Fibrillin is a primary component of microfibrils, which are found throughout the extracellular matrix (ECM) and provide elasticity and resilience to connective tissue. Microfibrils also play a role in signaling by sequestering growth factors and interacting with cell surface receptors. In many tissues, microfibrils are interwoven with elastin, collagens, and other elements of the ECM. However, uniquely in the ciliary zonule of the eye, microfibrils exist in cell-free bundles largely devoid of other components. This structure offers a rare opportunity to study a pure population of fibrillin microfibrils in a relatively native state. Here, we briefly review the organization of the zonule and describe recent experiments in which we measure zonular biomechanics, providing insights into microfibril dynamics that would be challenging to obtain in other contexts. Full article
(This article belongs to the Special Issue Molecular and Cellular Mechanisms of Marfan Syndrome)
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12 pages, 3448 KB  
Article
The Effect of the Zonular Fiber Angle of Insertion on Accommodation
by Liying Feng, Barbara Pierscionek, Henk Weeber, Carmen Canovas Vidal and Jos J. Rozema
Vision 2024, 8(3), 45; https://doi.org/10.3390/vision8030045 - 23 Jul 2024
Viewed by 2182
Abstract
Purpose: With age, there is an anterior shift of the ciliary body in the eye, which alters the angle of zonular insertion in older eyes compared with younger eyes. This study aims to simulate lens accommodation with different zonular angles to consider the [...] Read more.
Purpose: With age, there is an anterior shift of the ciliary body in the eye, which alters the angle of zonular insertion in older eyes compared with younger eyes. This study aims to simulate lens accommodation with different zonular angles to consider the influence of zonular position on lens accommodative capacity. Methods: Models were constructed based on lenses aged 11, 29, and 45 years using a 2D axisymmetric structure that included a capsule, cortex, nucleus, and zonular fibers. The different zonular fibers were simulated by changing the position of the point where the zonular fibers connect to the ciliary body. The effect of the different zonular fiber insertion angles on the model shape and optical power was analyzed. Results: The models show that smaller angles made by zonular fibers to the surface of the lens lead to larger optical power changes with simulated stretching. When the models were stretched, and when varying the zonule angles, the optical power of the 11-, 29-, and 45-year-old models changed up to 0.17 D, 0.24 D, and 0.30 D, respectively. The effect of zonular angles on the anterior radius of curvature of the anterior surface varied by 0.29 mm, 0.23 mm, and 0.25 mm for the 11-, 29-, and 45-year-old models, respectively. Conclusions: Larger zonular fiber insertion angles cause smaller deformation and less accommodative change, while parallel zonules induce the largest change in lens shape. Full article
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