Association found between keratoconus, connective tissue hyperlaxity
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Key takeaways:
- Keratoconus was associated with systemic manifestations of connective tissue hyperlaxity.
- A systemic underlying connective tissue pathology may be the cause of keratoconus.
A group of researchers found an association between keratoconus and connective tissue hyperlaxity in a large cohort of adolescents and young adults.
These findings suggest that keratoconus might be the expression of a connective tissue disorder rather than a localized disorder of the cornea.
“The more red flags we have in medicine, the better. Double-jointedness and other forms of hypermobility present much earlier than the classic keratoconus eye symptoms. Now that we know about this association, care providers can make earlier diagnoses and deliver the proper treatment before it’s too late,” study author Alexandra Satanovsky, orthopedic surgeon at Jerusalem’s Hadassah Medical Organization, told Healio.
The population-based cross-sectional study reviewed 940,763 medical records of Israeli adolescents and young adults in military service. As noted by the authors, pre-conscription assessment provides a large amount of medical data classified according to a fitness-for-service (FFS) coding system, and during military service, the FFS codes are regularly updated.
In the study cohort, keratoconus was documented in 1,529 cases. Male gender and greater height, weight and BMI were significantly related to keratoconus diagnosis. Subjects with keratoconus were found to have a significantly higher rate of scoliosis, genu varum or valgus, and pes planus. Hernia was significantly more prevalent in this group, with a 2.18-fold higher risk as compared with the general population. These associations remained consistent after adjusting for possible confounders.
The authors explained that collagen abnormalities could be the common element between the degradation of corneal tissue in keratoconus and the systemic manifestations of connective tissue hyperlaxity involving the knees, feet, spine and abdomen. A shared genetic component, namely a mutation in the LOX gene on chromosome 5, could also suggest a common inheritance between inguinal hernia and keratoconus.