Blue sclera is most commonly associated with which condition?

Blue sclera is most commonly associated with osteogenesis imperfecta. This condition is a genetic disorder characterized by fragile bones that break easily, often with little or no apparent cause. One of the notable features of osteogenesis imperfecta is the blue tint of the sclera, or the white part of the eye. This occurs due to the underlying connective tissue abnormality. In individuals with osteogenesis imperfecta, the collagen in their sclera is typically altered, allowing the underlying choroidal pigment to show through, resulting in a blue appearance.

While other conditions such as Marfan syndrome, Ehlers-Danlos syndrome, and neurofibromatosis involve connective tissue abnormalities and can present with various eye features, they do not generally lead to the distinct blue sclera that is a hallmark of osteogenesis imperfecta. This specificity of blue sclera as it relates to osteogenesis imperfecta is an important diagnostic cue in clinical practice.