The Underlying Relationship between Keratoconus and Down Syndrome

Simple item page
dc.creatorAkoto, Theresa
dc.creatorLi, Jiemin J.
dc.creatorEstes, Amy J.
dc.creatorKaramichos, Dimitrios
dc.creatorLiu, Yutao
dc.creator.orcid0000-0002-8761-3824 (Karamichos, Dimitrios)
dc.date.accessioned2023-02-07T21:55:47Z
dc.date.available2023-02-07T21:55:47Z
dc.date.issued2022-09-24
dc.description.abstractKeratoconus (KC) is one of the most significant corneal disorders worldwide, characterized by the progressive thinning and cone-shaped protrusion of the cornea, which can lead to severe visual impairment. The prevalence of KC varies greatly by ethnic groups and geographic regions and has been observed to be higher in recent years. Although studies reveal a possible link between KC and genetics, hormonal disturbances, environmental factors, and specific comorbidities such as Down Syndrome (DS), the exact cause of KC remains unknown. The incidence of KC ranges from 0% to 71% in DS patients, implying that as the worldwide population of DS patients grows, the number of KC patients may continue to rise significantly. As a result, this review aims to shed more light on the underlying relationship between KC and DS by examining the genetics relating to the cornea, central corneal thickness (CCT), and mechanical forces on the cornea, such as vigorous eye rubbing. Furthermore, this review discusses KC diagnostic and treatment strategies that may help detect KC in DS patients, as well as the available DS mouse models that could be used in modeling KC in DS patients. In summary, this review will provide improved clinical knowledge of KC in DS patients and promote additional KC-related research in these patients to enhance their eyesight and provide suitable treatment targets.
dc.description.sponsorshipThis study was funded by the National Institute of Health P30EY031631, R01EY023242, R21EY032320, R21EY028671, and Down Syndrome Achieves.
dc.identifier.citationAkoto, T., Li, J. J., Estes, A. J., Karamichos, D., & Liu, Y. (2022). The Underlying Relationship between Keratoconus and Down Syndrome. International journal of molecular sciences, 23(18), 10796. https://doi.org/10.3390/ijms231810796
dc.identifier.issn1422-0067
dc.identifier.issue18
dc.identifier.urihttps://hdl.handle.net/20.500.12503/32012
dc.identifier.volume23
dc.publisherMDPI
dc.relation.urihttps://doi.org/10.3390/ijms231810796
dc.rights.holder© 2022 by the authors.
dc.rights.licenseAttribution 4.0 International (CC BY 4.0)
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceInternational Journal of Molecular Sciences
dc.subjectCentral Corneal Thickness (CCT)
dc.subjectDown syndrome (DS)
dc.subjectKeratoconus (KC)
dc.subjectgenetics
dc.subjectmouse models
dc.subjectcornea
dc.subject.meshAnimals
dc.subject.meshCornea
dc.subject.meshDown Syndrome / complications
dc.subject.meshIncidence
dc.subject.meshKeratoconus / diagnosis
dc.subject.meshKeratoconus / epidemiology
dc.subject.meshKeratoconus / etiology
dc.subject.meshMice
dc.subject.meshPrevalence
dc.titleThe Underlying Relationship between Keratoconus and Down Syndrome
dc.typeArticle
dc.type.materialtext

Files

Original bundle

Now showing 1 - 1 of 1
Thumbnail Image
Name:
full text article
Size:
821.15 KB
Format:
Adobe Portable Document Format
Description:
Download

Collections

Publications -- Dimitrios Karamichos