biostudies-literatureAkoto TNIH HHS10796https://www.ebi.ac.uk/biostudies/studies/S-EPMC9503764biostudies-literatureUnknown23(18)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 relationshiInternational journal of molecular sciencesThe Underlying Relationship between Keratoconus and Down Syndrome.PMC9503764P30EY031631 R01EY023242 R21EY032320 R21EY028671Liu YEstes AJAkoto TLi JJKaramichos DfalseThe Underlying Relationship between Keratoconus and Down Syndrome.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 relationshi2022-01-01T00:00:00Z2022 Sep2025-04-21T16:09:56.668Z2025-04-21T16:09:56.668ZS-EPMC95037643614270910.3390/ijms231810796