Which finding is most commonly associated with osteogenesis imperfecta on ophthalmic examination?

Which finding is most commonly associated with osteogenesis imperfecta on ophthalmic examination?

• A. Aniridia
• B. Blue sclera
• C. Coloboma
• D. Retinal detachment

Answer: (B)

Osteogenesis imperfecta is a disorder of type I collagen that weakens connective tissues, including the sclera of the eye. On ophthalmic examination, the most characteristic finding is blue sclera. The sclera becomes thinner and more translucent because of defective collagen, allowing the underlying choroidal vessels and pigment to show through, giving a blue hue. This bluish sclera is a classic association with the condition, especially in children. Other options describe ocular findings that are not typical for osteogenesis imperfecta, such as absence of the iris, iris/choroid defects, or retinal detachment, making blue sclera the best fit.

Osteogenesis imperfecta is a disorder of type I collagen that weakens connective tissues, including the sclera of the eye. On ophthalmic examination, the most characteristic finding is blue sclera. The sclera becomes thinner and more translucent because of defective collagen, allowing the underlying choroidal vessels and pigment to show through, giving a blue hue. This bluish sclera is a classic association with the condition, especially in children. Other options describe ocular findings that are not typical for osteogenesis imperfecta, such as absence of the iris, iris/choroid defects, or retinal detachment, making blue sclera the best fit.