The Underlying Relationship between Keratoconus and Down Syndrome

Akoto, Theresa; Li, Jiemin J.; Estes, Amy; Karamichos, Dimitrios; Liu, Yutao

doi:10.3390/ijms231810796

Cited by 9 publications

(5 citation statements)

References 183 publications

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“…The prevalence of keratoconus in Down syndrome patients has been reported as ranging from 0% to 71% across the literature [ 48 ], with the variation being possibly attributed to patients’ age, ethnicity, sample size of the study, and the variety of diagnostic criteria and technologies used [ 49 ]. Several studies examining the prevalence of ocular disease in children from various ethnic populations did not detect keratoconus in their Down syndrome populations [ 50 , 51 , 52 , 53 ].…”

Section: Resultsmentioning

confidence: 99%

Systemic Associations with Keratoconus

Unni

Lee

2023

Life

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Keratoconus is a disease of the cornea that results in progressive steepening and thinning of the cornea and subsequent vision loss. It nearly always presents as a bilateral disease, suggesting that there is an underlying abnormality of the corneas that becomes manifest with time. However, the mechanisms underlying the development of keratoconus are largely unknown. Associations reported between keratoconus and systemic diseases are abundant in the literature, and the list of possible associations is very long. We found that atopy, Down syndrome, and various connective tissue diseases were the most frequently cited associations in our broad literature search. Additionally, Diabetes Mellitus has been increasingly studied as a possible protective factor against keratoconus. In this review, we have summarized the evidence for and against these particular systemic conditions and keratoconus and have discussed some of the implications of keratoconus patients having these conditions.

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Section: Resultsmentioning

confidence: 99%

Systemic Associations with Keratoconus

Unni

Lee

2023

Life

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“…In their study, Akoto et al examined various ophthalmic manifestations of DS, the genetic factors relating to the cornea, central corneal thickness and mechanical forces on the cornea. These factors play critical roles as risk factors in the pathophysiology of keratoconus and their association with DS [ 115 ]. Furthermore, the analysis revealed a genetic association between keratoconus and DS through sequence variants within or near the COL6A1 and COL6A2 genes on chromosome 21.…”

Section: Gene Expression Changes Affecting Ocular Developmentmentioning

confidence: 99%

Gene Expression Studies in Down Syndrome: What Do They Tell Us about Disease Phenotypes?

Chapman,

Ramnarine,

Zemke

et al. 2024

IJMS

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Down syndrome is a well-studied aneuploidy condition in humans, which is associated with various disease phenotypes including cardiovascular, neurological, haematological and immunological disease processes. This review paper aims to discuss the research conducted on gene expression studies during fetal development. A descriptive review was conducted, encompassing all papers published on the PubMed database between September 1960 and September 2022. We found that in amniotic fluid, certain genes such as COL6A1 and DSCR1 were found to be affected, resulting in phenotypical craniofacial changes. Additionally, other genes such as GSTT1, CLIC6, ITGB2, C21orf67, C21orf86 and RUNX1 were also identified to be affected in the amniotic fluid. In the placenta, dysregulation of genes like MEST, SNF1LK and LOX was observed, which in turn affected nervous system development. In the brain, dysregulation of genes DYRK1A, DNMT3L, DNMT3B, TBX1, olig2 and AQP4 has been shown to contribute to intellectual disability. In the cardiac tissues, dysregulated expression of genes GART, ETS2 and ERG was found to cause abnormalities. Furthermore, dysregulation of XIST, RUNX1, SON, ERG and STAT1 was observed, contributing to myeloproliferative disorders. Understanding the differential expression of genes provides insights into the genetic consequences of DS. A better understanding of these processes could potentially pave the way for the development of genetic and pharmacological therapies.

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“…Another study reviewed the association between KC and DS, showing increasing evidence that supported the elevated risk (>100 times) of KC in DS patients. The genetic association of sequence variants within, or near the COL6A1 and COL6A2 genes on Chr21, with KC provided an additional functional link between KC and DS [ 64 ].…”

Section: Genetics and Molecular Biologymentioning

confidence: 99%

Enhanced Diagnostics for Corneal Ectatic Diseases: The Whats, the Whys, and the Hows

Esporcatte

Salomão

Neto³

et al. 2022

Diagnostics

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There are different fundamental diagnostic strategies for patients with ectatic corneal diseases (ECDs): screening, confirmation of the diagnosis, classification of the type of ECD, severity staging, prognostic assessment, and clinical follow-up. The conscious application of such strategies enables individualized treatments. The need for improved diagnostics of ECD is related to the advent of therapeutic refractive procedures that are considered prior to keratoplasty. Among such less invasive procedures, we include corneal crosslinking, customized ablations, and intracorneal ring segment implantation. Besides the paradigm shift in managing patients with ECD, enhancing the sensitivity to detect very mild forms of disease, and characterizing the inherent susceptibility for ectasia progression, became relevant for identifying patients at higher risk for progressive iatrogenic ectasia after laser vision correction (LVC). Moreover, the hypothesis that mild keratoconus is a risk factor for delivering a baby with Down’s syndrome potentially augments the relevance of the diagnostics of ECD. Multimodal refractive imaging involves different technologies, including Placido-disk corneal topography, Scheimpflug 3-D tomography, segmental or layered tomography with layered epithelial thickness using OCT (optical coherence tomography), and digital very high-frequency ultrasound (VHF-US), and ocular wavefront. Corneal biomechanical assessments and genetic and molecular biology tests have translated to clinical measurements. Artificial intelligence allows for the integration of a plethora of clinical data and has proven its relevance in facilitating clinical decisions, allowing personalized or individualized treatments.

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The Underlying Relationship between Keratoconus and Down Syndrome

Cited by 9 publications

References 183 publications

Systemic Associations with Keratoconus

Systemic Associations with Keratoconus

Gene Expression Studies in Down Syndrome: What Do They Tell Us about Disease Phenotypes?

Enhanced Diagnostics for Corneal Ectatic Diseases: The Whats, the Whys, and the Hows

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