Abstract
Congenital glaucoma is a broad group of disorders that present with elevated intraocular pressure in children. Pediatricians and family physicians have significant roles in diagnosing the condition in its early stages. The disorder is infrequent but can be a sight threatening condition or even life threatening when associated with certain systemic conditions. The reported incidence of the condition is variable and more prevalent in certain parts of the world. This review will discuss updates on the classification of congenital glaucoma, the role of genetics in this disorder, and current concepts of the pathogenesis of the disease. In addition, the clinical signs and symptoms of the disease as well as ophthalmic and systemic workup will be reviewed. This review will also describe current medical and surgical treatment, and visual outcomes. In addition, the importance of long-term visual rehabilitation and the role of the pediatrician or other primary care provider in this process will be emphasized.
Keywords: CYP1B1 mutations, Myocillin, Cornea, systemic evaluation, timolol
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