Final answer:
Blue sclera is a symptom characteristic of Osteogenesis imperfecta (OI), a genetic disorder that results in fragile bones due to a deficiency in collagen.
Step-by-step explanation:
Blue sclera, which is the medical term for the blue discoloration of the whites of the eyes, is characteristic of Osteogenesis imperfecta (OI). OI, also known as brittle bone disease, includes a group of inherited disorders that affect bone formation, making them fragile and prone to fractures. It is mainly caused by a deficiency in the quantity and quality of collagen due to genetic mutations.
People with OI typically have various bone-related issues, as their bones can easily bend or fracture. Type I OI often presents itself in early infancy with fractures, while Type II is more severe and can lead to mortality in utero. The hallmark blue sclera in patients is due to the translucency of the connective tissue over the sclera, reflecting the underlying choroidal veins.