Glaucoma can be inherited as a mendelian autosomal-dominant or autosomal- recessive trait, or as a complex multifactorial trait. Genetic approaches have. Primary Congenital Glaucoma (Infantile Glaucoma). 3-year-old female referred for evaluation of increased eye size, OS. Presented by Jeffrey. Glaucoma is a group of eye diseases which result in damage to the optic nerve and vision loss. The most common type is open-angle glaucoma with less.

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Ophthalmology and Visual Sciences. History of Present Illness: The patient was initially noted to have tearing, OS, and was treated with antibiotics.

At 1 year of age, the parents noted slightly increased size of the eye, OS. The patient was not seen by an ophthalmologist until age 3, when the asymmetric eye size became obvious and corneal haze noted, OS.

This patient’s increased intraocular pressure, corneal edema, increased horizontal corneal diameter, and increased axial eye length point toward the diagnosis of buphthalmos and likely primary congenital glaucoma. The history of approximately 2 years of increased eye size OS would place the onset of disease around 1 year of age; typical onset of primary congenital glaucoma is between months of age.

After the surgical procedure, the intraocular pressure in the affected eye returned to normal 16 mm Hg.

Genetic Etiologies of Glaucoma

No further surgery was required and no pressure-lowering blaucoma were needed to control the intraocular pressure thereafter. Glaucoma in infants can result from a number of secondary causes or be associated with systemic anomalies.

However, when glaucoma develops within the first 3 years of life in g,aucoma absence of any secondary cause or related systemic problem, the term primary congenital glaucoma is applied.

The cause of primary congenital glaucoma is confenito completely understood, though there is significant research to suggest that the trabecular meshwork is immature and compressed. Studies suggest that the normal posterior migration of embryonic neural crest cells destined to become the trabecular meshwork is abnormally halted Alward, The angle of children with primary congenital glaucoma is described as immature, thick, and compressed.

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High intraocular pressures are believed to be a consequence of increased resistance to aqueous outflow in this abnormal trabecular meshwork. By definition, primary congenital glaucoma occurs in children between the ages of 6 months and 3 years.

The majority of cases do not present at birth, presumably because even the abnormal drainage system can handle the minute amounts of aqueous humor that are produced in the infant eye during the first several months of life. Cases diagnosed at birth, then, tend to be more severe. Though there have been some documented patterns of autosomal recessive inheritance of the disease mutations in CYPB genemost cases of primary congenital glaucoma hlaucoma to be sporadic.

This is the classic or “diagnostic triad” of symptoms. The pediatric eye will grow increasingly in response to the elevated intraocular pressure.

Glaucomq often results in an enlarged cornea and increased axial eye length in the affected eye. This can result in an enlargement of the globe, often referred to as “buphthalmos”, meaning “ox eye”.

Corneal edema and haze is a common sign of the disease, glakcoma are horizontal or circumferential breaks in Descemet’s membrane termed “Haab’s striae” see Figures 3 and 4. Haab’s Striae will remain visible on examination throughout the patient’s life, even if the edema resolves glaucomz normalization of intraocular pressure.

On gonioscopy there is higher, flatter insertion of the iris at the level of the scleral spur, and the trabecular meshwork appears compacted. Unlike adult open angle glaucoma, the first-line treatment for congenital glaucoma is often surgical.

First, however, the child must be examined carefully usually in the operating room under anesthesia due to the difficulty of a detailed exam of an infant in the exam lane to obtain accurate pressures, a detailed ocular exam, and photos. This will help to properly rule out any secondary cause of the glaucoma and obtain baseline data before proceeding with treatment.

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Once the diagnosis is confirmed under anesthesia, the surgeon will often proceed with appropriate surgery during this same anesthesia. The surgical treatment of choice is either a trabeculotomy or goniotomy. Both of these procedures surgically open up the immature, non-functioning trabecular meshwork and aim to restore normal outflow of aqueous from the anterior chamber to the Schlemm’s canal.

Glaucoma – Wikipedia

If surgery is succesful, intraocular pressure can be adequately controlled without the need for long-term topical medications. Maassen J, Kwon YH.

Primary Congenital Glaucoma Infantile Glaucoma: June 20, ; Available from: Glaucoa Privacy Policy Nondiscrimination Statement. No previous ocular history. No eye surgery nor eye trauma.

None Family and Social History: Corneal stromal haze and edema see Figure 2 Gonioscopy: OD, 11 mm; OS, 13 mm Axial eye length echography: External photograph during initial examination.

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Note the increased tear lake in the affected eye. External congeniti taken during examination under anesthesia EUA. Note the increased corneal diameter, OS glacuoma to OD, in both photographs.

Figure 2 Handheld slit lamp exam during examination under anesthesia. Note stromal edema superiorly arrows. The Requisites in Ophthalmology. Section 10, Basic and Clincial Science Course. American Academy of Ophthalmology; ; Chapter 6, p. Long-term outcome of trabeculotomy for the treatment of developmental glaucoma. Handheld slit lamp exam during examination under anesthesia. Photophobia Epiphora Blepharospasm Corneal “clouding” may be evident to the parent.

Infantile glaucoma success rate was