Brittle Cornea Syndrome: The One-in-Million Cause of Extreme Corneal Fragility

Brittle cornea syndrome (BCS) is a rare autosomal recessive connective tissue disorder. It is characterised by progressive corneal thinning, corneal ectasia, blue sclera, and marked ocular fragility. These features lead to a significantly increased risk of spontaneous or traumatic corneal perforation. The condition was first described by Stein et al. in 1968 during an attempted surgical repair of a corneal perforation. During suturing, the cornea was observed to fragment easily, highlighting its extreme fragility. The syndrome was later further characterised by Ticho et al., who reported the association of brittle cornea with blue sclera and red hair. In contrast to other connective tissue disorders with ocular involvement, BCS primarily affects the cornea rather than the sclera. This distinction is clinically important, as it has implications for diagnosis, management, and prognosis.