RESUMO
Brittle cornea syndrome (BCS) is a genetic connective tissue disorder with discernible ocular features such as blue scleral and thin cornea that predominantly presents in younger children. We herein describe cases of three siblings with BCS, two of whom presented to us with open globe injuries following trivial trauma. Clinical examination of the other eye in both showed diffusely thin corneas and blue sclera. A systemic evaluation revealed sensorineural hearing loss and hyperextensible joints. The third sibling was screened and found to have features concurrent with BCS. This report highlights the challenges faced in the management of ocular injuries and consecutive complications in these patient
RESUMO
Congenital corneal anesthesia (CCA) is an extremely rare condition where the cornea is affected in isolation or as a part of congenital syndrome, or can be associated with systemic anomalies. This case series of 12 eyes provides an overview of various clinical presentations and their final treatment outcomes. The average age of presentation was 3.2 years with a female preponderance (75%). Fifty percent of the patients had bilateral involvement and 50% had corneal ulcers at presentation. Two eyes required therapeutic keratoplasty for corneal perforation. All patients had isolated CCA except for one who had an associated hereditary and sensory autonomic neuropathy.