Infantile glaucoma associated with the Diamond-Blackfan syndrome

Diamond-Blackfan syndrome is a rare congenital hematologic disorder characterized by isolated erythroid hypoplasia. Physical abnormalities such as short stature, thumb deformities, and ophthalmic findings including strabismus, hypertelorism, and microphthalmos have been reported to occur with this disease entity. We describe two patients with this blood dyscrasia and infantile glaucoma with trabeculodysgenesis. Both patients underwent multiple surgical procedures to control their glaucoma. The patients were on chronic systemic adrenal corticosteroid therapy for their anemia, which caused some confusion regarding the etiology of their glaucoma. To our knowledge, this is the first report of an association of infantile glaucoma with Diamond-Blackfan syndrome. We hope this report will encourage early recognition and treatment of glaucoma in patients with this disorder.