Primary juvenile glaucoma is

glaucoma Glaucoma is a group of eye diseases that result in damage to the optic nerve (or retina) and cause vision loss. The most common type is open-angle (wide angle, chronic simple) glaucoma, in which the drainage angle for fluid within the eye rem ...

that develops due to

ocular hypertension Ocular hypertension is the presence of elevated fluid pressure inside the eye (intraocular pressure), usually with no optic nerve damage or visual field loss. For most individuals, the normal range of intraocular pressure is between 10 mmHg and 2 ...

and is evident either at birth or within the first few years of life. It is caused due to abnormalities in the anterior chamber angle development that obstruct aqueous outflow in the absence of systemic anomalies or other ocular malformation.

Presentation

The typical infant who has congenital glaucoma usually is initially referred to an ophthalmologist because of apparent corneal edema. The commonly described triad of epiphora (excessive tearing), blepharospasm and photophobia may be missed until the corneal edema becomes apparent.

Systemic associations

Two of the more commonly encountered disorders that may be associated with congenital glaucoma are Aniridia and

Sturge–Weber syndrome Sturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is one of the phakomatoses and is often associated with port-wine stains of the face, glaucoma, seizures, ...

Genetics

JOAG is an autosomal dominant condition. The primary cause is the myocilin protein dysfunction. Myocilin gene mutations are identified in approximately 10% of patients affected by juvenile glaucoma.

Diagnosis

The diagnosis is clinical. The

intraocular pressure Intraocular pressure (IOP) is the fluid pressure inside the eye. Tonometry is the method eye care professionals use to determine this. IOP is an important aspect in the evaluation of patients at risk of glaucoma. Most tonometers are calibrated t ...

(IOP) can be measured in the office in a conscious swaddled infant using a Tonopen or hand-held Goldmann tonometer. Usually, the IOP in normal infants is in the range of 11-14 mmHg.

Buphthalmos Buphthalmos (plural: buphthalmoses) is enlargement of the eyeball and is most commonly seen in infants and young children. It is sometimes referred to as buphthalmia (plural buphthalmias). It usually appears in the newborn period or the first 3 mo ...

and Haab's striae can often be seen in case of congenital glaucoma.

Differential diagnosis

Corneal cloudiness may have myriad of causes.

Corneal opacity The human cornea is a transparent membrane which allows light to pass through it. The word corneal opacification literally means loss of normal transparency of cornea. The term corneal opacity is used particularly for the loss of transparency of c ...

that results from hereditary dystrophies is usually symmetric. Corneal enlargement may result from

megalocornea Megalocornea (MGCN, MGCN1) is an extremely rare nonprogressive condition in which the cornea has an enlarged diameter, reaching and exceeding 13 mm. It is thought to have two subforms, one with autosomal inheritance and the other X-linked (Xq2 ...

, a condition in which the diameter of the cornea is larger than usual and the eye is otherwise normal.

Treatment

The preferred treatment of congenital glaucoma is surgical, not medical. The initial procedures of choice are goniotomy or trabeculotomy if the cornea is clear, and trabeculectomy ab externo if the cornea is hazy. The success rates are similar for both procedures in patients with clear corneas. Trabeculectomy and shunt procedures should be reserved for those cases in which goniotomy or trabeculotomy has failed.

Cyclophotocoagulation Cyclodestruction or cycloablation is a surgical procedure done in management of glaucoma. Cyclodestruction reduce intraocular pressure (IOP) of the eye by decreasing production of aqueous humor by the destruction of ciliary body. Until the developm ...

is necessary in some intractable cases but should be avoided whenever possible because of its potential adverse effects on the lens and the retina.

Epidemiology

In the United States, the incidence of primary congenital glaucoma is about one in 10,000 live births. Worldwide, the incidence ranges from a low of 1:22,000 in Northern Ireland to a high of 1:2,500 in Saudi Arabia and 1:1,250 in Romania. In about two-thirds of cases, it is bilateral. The distribution between males and females varies with geography. In North America and Europe, it is more common in boys, whereas in Japan it is more common in girls.Diagnosis and Treatment of Primary Congenital Glaucoma
;Congenital glaucoma * Incidence: one in every 10000-15000 live births. * Bilateral in up to 80% of cases. * Most cases are sporadic (90%). However, in the remaining 10% there appears to be a strong familial component.

References

External links

* * ;

MYOC Myocilin, trabecular meshwork inducible glucocorticoid response (TIGR), also known as MYOC, is a protein which in humans is encoded by the ''MYOC'' gene. Mutations in ''MYOC'' are a major cause of glaucoma. Gene location The cytogenetic locat ...

* ;

CYP1B1 Cytochrome P450 1B1 is an enzyme that in humans is encoded by the ''CYP1B1'' gene. Function CYP1B1 belongs to the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved i ...

* on

eMedicine eMedicine is an online clinical medical knowledge base founded in 1996 by doctors Scott Plantz and Jonathan Adler, and computer engineer Jeffrey Berezin. The eMedicine website consists of approximately 6,800 medical topic review articles, each of ...

Glaucoma for Children
on AAPOS. * Congenital Primary Glaucoma on patient.info
GeneReview/NCBI/NIH/UW entry on Primary Congenital Glaucoma

Glaucoma entry on PGCFA
{{Congenital malformations and deformations of eye, ear, face and neck Congenital disorders of eyes Blindness Pediatrics