The Underlying Relationship between Keratoconus and Down Syndrome

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

Research output: Contribution to journalReview articlepeer-review

1 Scopus citations


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 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.

Original languageEnglish
Article number10796
JournalInternational journal of molecular sciences
Issue number18
StatePublished - Sep 2022


  • Central Corneal Thickness (CCT)
  • Down syndrome (DS)
  • Keratoconus (KC)
  • cornea
  • genetics
  • mouse models


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