Congenital glaucoma in siblings

We report on a full term female neonate delivered by cesarean section at 37 2/7 weeks of gestation. The mother, a 28-year-old G2/P2, had a history of autoimmune thrombocytopenia and diabetes mellitus type I. She also has astigmatism and the father is myopic. There is no history of consanguinity. The first child, a son, was born at term and discharged home considered to be healthy. However, the parents noticed corneal clouding, and brought their baby to the pediatrician who confirmed corneal opacities and buphthalmus. The child was referred to the ophthalmologist who diagnosed congenital glaucoma at the age of four weeks. After numerous surgical procedures and treatment with antihypertensive agents, his visualoutcome at three and a half years is presently 0.25 cardiff charts in the right eye and 0.158 cardiff charts in the left eye. Because of the possibility of an inherited condition as an autosomal recessive trait, genetic analysis was recommended but declined by the parents.