Bilateral Blue Sclerae as the Presenting Sign of Osteogenesis Imperfecta in an Adult

Abstract

Introduction: Osteogenesis imperfecta (OI) is a rare heritable disorder of connective tissue caused, in most cases, by quantitative or qualitative defects in type I collagen. Blue sclerae are a classic but non-specific ocular sign and may be the first clue to an undiagnosed systemic disease. This case describes their identification during a routine examination in an adult. Case Presentation: A 56-year-old woman was found to have bilateral blue sclerae during a routine ophthalmological examination. Directed questioning revealed a history of repeated low-trauma fractures, ligamentous hyperlaxity and short stature. She was referred to rheumatology, where bone densitometry and skeletal radiographs confirmed the diagnosis of OI. Conclusion: Blue sclerae should not be dismissed as an incidental finding. The ophthalmologist may be the first physician to suspect OI, and recognition of this sign allows early multidisciplinary management aimed at preventing skeletal, auditory and functional complications, as well as providing genetic counselling for the family.