Bilateral Blue Sclerae as the Presenting Sign of Osteogenesis Imperfecta in an Adult
Adel Hajjaji *
Department of Ophthalmology, Moulay Ismail Military Hospital, Meknes, Morocco.
Samah Sadiki
Department of Ophthalmology, Military Hospital Mohammed V, Rabat, Morocco.
Abdelaziz Hamidi Alaoui
Department of Ophthalmology, Moulay Ismail Military Hospital, Meknes, Morocco.
Adil Bouzidi
Department of Ophthalmology, Moulay Ismail Military Hospital, Meknes, Morocco.
Aziz El Ouafi
Department of Ophthalmology, Moulay Ismail Military Hospital, Meknes, Morocco.
*Author to whom correspondence should be addressed.
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.
Keywords: Osteogenesis imperfecta, bilateral blue sclerae, adult diagnosis, type I collagen, ligamentous hyperlaxity, bone mineral density