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ARTICLES
Year : 1974  |  Volume : 22  |  Issue : 1  |  Page : 38-39

Blue sclera with fragilitas ossium


Nehru Institute of Ophthalmology and Research, Eye Hospital, Sitapur, India

Correspondence Address:
A K Paul
Nehru Institute of Ophthalmology and Research, Eye Hospital, Sitapur
India
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Source of Support: None, Conflict of Interest: None


PMID: 4448535

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How to cite this article:
Paul A K, Singhal K C, Khan N A. Blue sclera with fragilitas ossium. Indian J Ophthalmol 1974;22:38-9

How to cite this URL:
Paul A K, Singhal K C, Khan N A. Blue sclera with fragilitas ossium. Indian J Ophthalmol [serial online] 1974 [cited 2020 Jun 1];22:38-9. Available from: http://www.ijo.in/text.asp?1974/22/1/38/31380

Blue sclera with fragilitas ossium is a rare congenital and hereditary syndrome of genetic origin. It is characterized by the three car­dinal manifestations of blue sclera, brittle bones and deafness and is often associated with other anomalies of the supporting meso­dermal tissues of the body [1] .

The present case is being reported because of its rarity and sporadic nature.


  Case Report Top


A boy of 12 years was admitted in the eye hospital Sitapur on August 16, 1973 as a case of loss of vision in both eyes after minor trauma. The left eye vision was lost 5 years hack and later the right eye vision 6 montly back. The boy had blue colour­ation of the sclera since birth. Two days after his birth, his mother noticed deformity in his feet and subsequently in his upper limbs. There was also history of multiple fractures of the bones during the first two years of his life and kvphosis since the time he started sitting [Figure - 1],[Figure - 2],[Figure - 3].

Ocular examination of the right eye revealed that the sclera was thin and bluish in colour, anterior chamber was shallow, pupil was constricted and there were posterior synechia with complicated cataract. Vision was reduced to only perception of light and projection of rays. Tension was within normal limits. There was corneal opacity due to perforation of the cornea by mild trauma caused by the child's own hand in March 1972 for which iridectomy had been done and corneal wound was sutured.

In the left eye also the sclera was thin and bluish in colour, the cornea was opaque and the pupil was bound down with synechia. There was a history of mild trauma followed by perforation of eve at the limbus with prolapse of iris which was repaired surgically about a year back. The eye had reached the stage of phthisis bulbi.

The long bones were deformed, both limbs were curved anteriorly and laterally and there was also deformity of vertebral column which gave the appearance of kyphosis. X-rays of both the extremities showed thining of the cortex in the lower portion with fracture of the shaft of radius of right fore-arm with bending of ulna forwards and outwards. There was also thickening in the upper half of both bones. Central nervous system, cardio-vascular system, gastroin­testinal system and respiratory system were normal.

X-rays of lower extremities revealed bending of both bones outwards and forwards with irregular thining and thickening of the cortex. The bone had a soap bubble appearance in calices. The fibula of each of the limb was markedly thin with a very delicate cortex.

He was deaf from both ears.


  Discussion Top


In this case, all the three cardinal manifestations have been noticed namely blue sclera, brittle bones and deafness. So far the condition of the eye is concerned the sclera re­mained very thin and the underlying uveal pig­ment is seen through the thin sclera. The sclera was so fragile that slightest trauma could cause rupture of the eye ball. The left eye of the patient had history of such a trivial trauma which caused perforation of the eye ball and ultimately phthisis bulbi. The cornea was also very thin and the right eye of the patient showed an old scar caused by perforation of the cornea due to slight injury. The whole skeletal structure was also very fragile and .often showed multiple fractures with distortion of the bones. The cause of deafness has been explained either due to otosclerosis or develop­ment of calcareous layer over the labyrinth. Eosinophilia was another feature noticed which is probably incidental [1] .


  Summary Top


A case of blue sclera with fragilitas ossium and deafness without any family history is be­ing reported. In addition he had eosinophilia.

 
  References Top

1.
Duke Elder, S., 1964, System of Ophthalmology, 111, 2, 1096-1100, Henry Kimpton, London.  Back to cited text no. 1
    


    Figures

  [Figure - 1], [Figure - 2], [Figure - 3]



 

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