Blue sclera is characteristic of?
Correct Answer: Osteogenesis imperfect
Description: ANSWER: (B) Osteogenesis imperfectaREF: Khurana 4th ed page 131, Yanoff 2nd ed page 518BLUE SCLERA:It is an asymptomatic condition characterised by marked, generalised blue discolouration of sclera due to thinning. It is a typical association of osteogenesis imperfecta. Osteogenesis imperfecta is an inherited condition that involves the skeleton, ear, joints, teeth, skin, and eyes. Van der Hoeve in 1918 described the three main signs of osteogenesis imperfecta: blue sclera, deafness, and bone fractures. The characteristic blue sclera is caused by thinness and transparency of the collagen fibers of the sclera that allow visualization of the underlying uvea.Note:Blue sclera is considered normal in premature infants and in white newborns, is pathologic if persists beyond 1st month of infancy.Causes of blue sclera:Osteogenesis imperfecta (Characteristic but not seen in Type IV)Iron deficiency anemia (87%)Pseudohypoparathyroidism (15%)Homocystinuria (5%)Marfan's syndrome (3%)Ehlers-Danlos syndrome Type VI (occasionally)Minocycline therapyTurner syndrome (very rare)Ocular staphyloma (very rare)Incontinentia Pigmenti (very rare)Pseudoxanthoma elasticum (very rare)Hypophosphatasia (very rare)Crouzon s disease (very rare)
Category:
Ophthalmology
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