A White Cornea For A Blue Sclera: A Dangerous Connection

Brittle Cornea Syndrome (BCS) is a rare connective tissue disorder characterized by severe corneal thinning and a high risk of spontaneous perforation. This syndrome presents clinical challenges due to limited therapeutic options. Our study aims to highlight the difficulties associated with this condition and review the available evidence regarding its management.

We report the case of a 19-year-old female patient with muscle hypotonia, lower limb deformities, spontaneous opacification of the right cornea, and spontaneous perforation of the left cornea following minimal rubbing. 

Ophthalmological examination revealed limited visual acuity, exaggerated eyelid elasticity, and a bluish sclera. Anterior segment OCT showed significant corneo-scleral thinning with associated Descemet membrane ruptures. The general examination also revealed musculoskeletal anomalies and abnormal imaging findings, leading to the diagnosis of Brittle Cornea Syndrome.

BCS is an autosomal recessive disorder characterized by increased connective tissue fragility, presenting with corneal ruptures and ectasias. It is often underdiagnosed due to its rarity and clinical overlap with other collagen disorders. Genetic testing is crucial for an accurate diagnosis. Preventing minor ocular trauma is essential to avoid corneal perforation. Treatment options include corneal strengthening techniques such as epikeratoplasty and collagen cross-linking.

Early diagnosis of BCS is critical to prevent severe ocular damage. Genetic differentiation is necessary to guide appropriate counseling and therapeutic interventions for each patient. Corneal strengthening procedures offer hope for treatment but require a precise prior diagnosis.