The developmental glaucomas are a group of disorders characterized by improper development of the eye’s aqueous outflow system, usually manifesting in infancy and childhood. Glaucoma in the infant is an uncommon disease, but the impact on visual development can be significant. Early recognition of and appropriate therapy for the glaucoma can significantly improve a child’s visual future. Preservation of any vision during a child’s formative years is important, even if, in severe cases, the vision is ultimately lost.

The childhood glaucomas are divided into three major categories: (1) primary congenital glaucoma, in which the developmental anomaly is restricted to a maldevelopment of the trabecular meshwork; (2) glaucoma associated with specific ocular or systemic congenital anomalies, and (3) glaucoma secondary to miscellaneous pediatric conditions involving the eye, such as inflammation, trauma, or tumors.

Terminology

Previously, the terminology of the glaucomas affecting infants was inconsistent and, at times, confusing. More precise terminology has arisen with developments in the field and should be used whenever possible.

The term developmental glaucoma refers to those glaucomas associated with developmental anomalies that are present at birth, including primary congenital glaucoma and secondary glaucomas associated with other developmental anomalies, either ocular or systemic.

•Congenital glaucoma is a term synonymous with developmental glaucoma. Secondary glaucoma in infants refers to glaucoma resulting from acquired ocular diseases.

•Primary congenital glaucoma is a specific term referring to eyes that have an isolated maldevelopment of the trabecular meshwork without other developmental ocular anomalies or diseases that can raise intraocular pressure (IOP).

•Infantile glaucoma is a term that has been used in a variety of contexts. Some use this term as a synonym for primary

congenital glaucoma, whereas others apply it to any glaucoma occurring during the first several years of life. Its meaning, therefore, should be specified or its use avoided. Primary infantile glaucoma is synonymous with primary congenital glaucoma.

•Juvenile glaucoma is a non-specific term referring to any type of glaucoma occurring later in childhood (after 5 years of age) and through the third to fourth decades. Sometimes a syndrome is

implied and is associated with myopia, autosomal dominance with penetrance as high as 80%, and characteristic clinical course; this condition has been linked to the short arm of

the first (1q) human chromosome, coding for the myocilin gene.1,2

•Buphthalmos and hydrophthalmia are archaic descriptive terms. Buphthalmos literally means ‘ox eye’ and refers to the marked enlargement that can result from any type of uncontrolled glaucoma presenting in early childhood. Hydrophthalmia refers to the high fluid content of buphthalmic eyes

(Fig. 19-1).

Classification

Syndrome classification

The developmental glaucomas have been classified in various ways (Box 19-1).1–8 The Shaffer-Weiss classification is based on syndromes that divide patients into those with primary congenital glaucoma, glaucoma associated with other congenital ocular or ­systemic anomalies, and secondary glaucomas in infants.1

Fig. 19-1  Advanced developmental glaucoma with extensive enlargement and scarring of the cornea. The anterior segment structures are not visible. This is classic buphthalmos.