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 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 Ophthalmology ( ) is a surgery, surgical subspecialty within medicine that deals with the diagnosis and treatment of eye disorders. An ophthalmologist is a physician who undergoes subspecialty training in medical and surgical eye care. Followin ...

because of apparent corneal edema. The commonly described triad of epiphora (excessive tearing),

blepharospasm Blepharospasm is any abnormal contraction of the orbicularis oculi muscle. The condition should be distinguished from the more common, and milder, involuntary quivering of an eyelid, known as myokymia, or fasciculation. In most cases, blepharosp ...

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 Aniridia is the absence of the iris, a muscular structure that opens and closes the pupil to allow light into the eye. It is also responsible for eye color. Without it, the central eye appears all black. It can be congenital, in which both eye ...

and Sturge–Weber syndrome.

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 (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 and

Haab's striae Haab's striae, or Descemet's tears, are horizontal breaks in the Descemet membrane associated with congenital glaucoma Primary juvenile glaucoma is glaucoma that develops due to ocular hypertension and is evident either at birth or within the fir ...

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, 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 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 * ; CYP1B1 * on eMedicine
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