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Primary infantile glaucoma

Scott E Olitsky, MD
James D Reynolds, MD
Section Editor
Evelyn A Paysse, MD
Deputy Editor
Carrie Armsby, MD, MPH


Glaucoma is a group of eye diseases that are traditionally characterized by elevated intraocular pressure (IOP). However, glaucoma is more accurately defined as an optic neuropathy and may not always be associated with elevated IOP. Glaucoma can lead to optic nerve damage and consequent visual loss. Peripheral vision loss occurs first, but if glaucoma is untreated, central vision loss and complete blindness can occur [1]. In infants and toddlers, additional damage to the visual system, including large refractive error, astigmatism, strabismus, and amblyopia, may occur. Early diagnosis and referral are crucial to ensure optimal visual outcome.

Primary glaucoma may have onset at birth, in the first few years of life, or later in life. A distinction sometimes is made between glaucoma that is present at birth (true congenital glaucoma) and glaucoma that has onset in the first two to three years of life (infantile glaucoma) because the prognosis differs [1-5]. The later the onset, the less severe the structural anomaly, and the more likely the glaucoma will respond to treatment [4].

The clinical features, diagnosis, and treatment of primary infantile glaucoma will be presented here. Other causes of glaucoma in children and glaucoma in adults are discussed separately. (See "Overview of glaucoma in infants and children" and "Open-angle glaucoma: Epidemiology, clinical presentation, and diagnosis".)


Primary infantile glaucoma occurs in 1:10,000 live births. It is a major cause of blindness [4]. Primary infantile glaucoma is bilateral in more than two-thirds of affected patients, but may be asymmetric in onset [6]. The onset of signs and symptoms occurs at birth in 40 percent of affected patients and before one year of age in 86 percent [7]; however, the age of recognition ranges from birth until late childhood.


Primary infantile glaucoma is usually a sporadic disease. However, a number of reports have indicated that between 10 and 27 percent of cases are inherited. Inheritance is autosomal-recessive in some cases and multifactorial in others; the penetrance is variable [4,8-10].

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Literature review current through: Nov 2017. | This topic last updated: Oct 18, 2017.
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