Eye examination of a child shows blue sclera. In which condition is it characteristically observed?
Correct Answer: Osteogenesis imperfecta
Description: Blue sclera is commonly seen in osteogenesis imperfecta. In this condition there is very thin sclera which allows the the blue color impaed by the underlying uveal tract to show through. It is not associated with any visual impairment. Other eye manifestations of this condition includes keratoconus, megalo-cornea, and corneal or lenticular opacities. Osteogenesis imperfecta is an autosomal dominant syndrome characterised by multiple fractures, blue sclera and deafness. The long bones are very fragile, fracture easily and heal with fibrous bony union. Ref: Vaughan & Asbury's General Ophthalmology, 18e, chapter 15
Category:
Ophthalmology
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