Use of an onlay corneal lamellar graft for brittle cornea syndrome

BMJ Case Rep. 2018 Aug 16:2018:bcr2017223824. doi: 10.1136/bcr-2017-223824.


Brittle cornea syndrome (BCS1 OMIM #229200, BCS2 #614170) is a rare autosomal recessive condition characterised by diffuse thinning and fragility of the cornea. Affected individuals are at risk of globe rupture and blindness after relatively minor eye trauma. We describe a 9-year-old girl with BCS1, already blind in one eye following trauma, who had a 14 mm diameter corneoscleral onlay graft to her contralateral eye to reduce gross irregular corneal astigmatism and potentially to reduce further risk from accidental injury. Although there was a significant initial improvement in the unaided visual acuity, there was subsequent visual loss from secondary glaucoma. In addition, despite the onlay graft, an acute corneal hydrops developed approximately 2 years following surgery, suggesting that in BCS1, corneal tissue degeneration or resorption continues despite external support. Finally, because secondary glaucoma is not a feature of BCS1, we speculate that the onlay graft may have reduced aqueous outflow by compression of the thinned sclera.

Keywords: anterior chamber; congenital disorders; eye; genetics; paediatric surgery.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Corneal Transplantation / methods*
  • Eye Abnormalities / complications
  • Eye Abnormalities / genetics
  • Eye Abnormalities / surgery*
  • Female
  • Glaucoma / complications
  • Humans
  • Joint Instability / complications
  • Joint Instability / congenital*
  • Joint Instability / genetics
  • Joint Instability / surgery
  • Rupture / prevention & control
  • Sclera / transplantation*
  • Skin Abnormalities / complications
  • Skin Abnormalities / genetics
  • Skin Abnormalities / surgery*
  • Tomography, Optical Coherence
  • Visual Acuity

Supplementary concepts

  • Brittle cornea syndrome 1