Which condition is described by the presence of blue sclera?

The presence of blue sclera is a characteristic feature of osteogenesis imperfecta, a genetic disorder caused by defects in collagen synthesis, leading to fragile bones that break easily. In individuals with osteogenesis imperfecta, the decreased synthesis of collagen type I results in a translucent appearance of the sclera, allowing the underlying choroidal veins to show through, giving the sclera a blue hue. This finding is particularly prominent in the more severe forms of the disorder.

In contrast, Marfan syndrome is characterized by tall stature, long limbs, and cardiovascular issues but does not typically present with blue sclera. Congenital glaucoma may lead to corneal enlargement and photophobia but does not affect the sclera's color. Wilson's disease, which involves copper accumulation in various organs, can cause a range of eye issues, particularly Kayser-Fleischer rings, but similarly does not produce blue sclera. Thus, the distinguishing feature of blue sclera is best associated with osteogenesis imperfecta.