Blue sclerae result from congenital thinning of the sclerae. The underlying epithelium shows through, giving a blue appearance.
Blue sclerae are most importantly associated with types I and II osteogenesis imperfecta, the latter of which is fatal and thus not seen in adult practice.
Other associations include:
- Ehler's danlos syndrome
- pseudoxanthoma elasticum
- Marfan's syndrome
A blue sclera may also be acquired through long-term use of corticosteroids.