Blue Sclerae in Osteogenesis Imperfecta

September 14, 2005
Haralampos Milionis, MD

,
Ioannis Asproudis, MD

A 33-year-old woman was referred to the endocrinology clinic because of osteoporosis. At age 6, she had fractured her right tibia with no history of trauma; at age 27, she fractured the third lumbar vertebra, and 3 years later she experienced a Colles' fracture of the left wrist. She gave birth to a healthy child 10 years ago.

A 33-year-old woman was referred to the endocrinology clinic because of osteoporosis. At age 6, she had fractured her right tibia with no history of trauma; at age 27, she fractured the third lumbar vertebra, and 3 years later she experienced a Colles' fracture of the left wrist. She gave birth to a healthy child 10 years ago.

On physical examination, the sole notable feature was the bright blue color of the patient's sclerae. Her teeth were normal, and she had no hearing problems. Results of routine laboratory tests and an ECG were normal. X-ray studies of her bones revealed generalized osteopenia, and dual-photon absorptiometry showed a 40% reduction of bone density. Serum levels of parathyroid hormone, vitamin D metabolites, calcium, and alkaline phosphatase were normal, as was the result of a dexamethasone suppression test.

The clinical diagnosis was osteogenesis imperfecta, type 1A, a mild form in which there are no dentition abnormalities. A meticulous family history failed to disclose any other case of this disease. The patient is being checked periodically.

Drs Haralampos Milionis, Ioannis Asproudis, and Moses Elisaf of Ioannina, Greece, point out that one feature of osteogenesis imperfecta is an abnormally thin sclera. Because of the defective connective tissue, the underlying vessels are visible and impart the blue color seen here.