Blue eyes?

5 patients were admitted to the peadiatric wards two days back. They came in for Pamidronate treatment. They had loose joints, limbs deformity with anterior bowing of femur, wasted calf muscles, and yes, blue eyes, or to be more precise, blue sclera. When interviewed, you will find that they had history of multiple fractures since birth. Some walked with difficulty; some could not even walk at all! No, this is not a case of child abuse. This is osteogenesis imperfecta (Latin: imperfect bone formation) or brittle bone disease, a autosomal dominant disorder due to the defective of type 1 collagen with generalized involvement of the bones, teeth, ligaments, sclera and skin. Collagen is an important protein for bone structure and this impairment causes weak or fragile bones.

And so, if you had ever wished you had blue eyes, think again…

p/s: on the brighter note, osteogenesis imperfect(OI) with blue sclera, being the milder form of OI, had better prognosis than those without.

p/ss: and it’s the sclera and not the iris that is blue. Why you may ask? It is because of the lack in collagen, causing such thinning that you can see the underlying choroidal veins which appears bluish. And students, PLEASE do NOT describe that as ‘cyanosed eyes’ , thank you.

Interested to know more? Visit the Osteogenesis Imperfecta Foundation