2022
DOI: 10.3390/ijms231810796
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The Underlying Relationship between Keratoconus and Down Syndrome

Abstract: Keratoconus (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 … Show more

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Cited by 10 publications
(5 citation statements)
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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%
“…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%
“…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%
“…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%