Hereditary forms of glaucoma include congenital glaucoma, juvenile glaucoma and adult open-angle glaucoma. Congenital glaucoma appears in the first months of life, at birth or in utero. It occurs in 1 in 10.000 births in Western Countries but is higher in other countries (especially in the Middle East). Isolated congenital glaucoma is characterized by minor malformations of the irido-corneal angle of the anterior chamber of the eye. Clinical manifestations include tearing, photophobia and enlargement of the globe, appearing in the first months of life. The disease is caused by obstruction of aqueous humor outflow. The mode of inheritance is autosomal recessive and the genes involved are CYP1B1, GLC3A and GLC3B. Treatment is primarily surgical. Juvenile glaucoma is a primary open-angle glaucoma appearing during the first two decades of life. It is characterized by elevated intraocular pressure, excavation of the optic nerve head, and amputation of the visual field. The frequency is unknown but probably underestimated. The mode of inheritance is autosomal dominant and the gene involved is MYOC. The treatment is medical and often surgical. Adult open-angle glaucoma is the most frequent form of glaucoma with clinical characteristics close to those of juvenile glaucoma, generally appearing after the age of 40 years. The etiology is probably multifactorial with an hereditary component. Several genes, including OPTN, are involved.
Last update: March 2004