Congenital Glaucoma Causes

Glaucoma is a group of diseases characterized by damage to the optic nerve that often occurs when the eye pressure is too high. This causes optic nerve damage and can result in severe vision loss. Most often the pressure is too high because the eye is able to make the fluid it needs, but is unable to sufficiently drain the fluid out.

Glaucoma is more common in the elderly but can develop at any age. Infants and children with glaucoma typically have different signs and symptoms than adults.

What are the different types and causes of pediatric glaucoma?

One way to classify glaucoma is based on the age of onset. Congenital glaucoma is present at birth. Infantile glaucoma develops between the ages of 1-24 months. Glaucoma with onset after age 3 years is juvenile glaucoma. Another way to classify glaucoma is to describe the structural abnormality or systemic condition which has caused the glaucoma.

Most cases of pediatric glaucoma have no specific identifiable cause and are considered primary glaucoma. When glaucoma is caused by, or associated with a specific condition or disease, it is called secondary glaucoma.

Examples of conditions which can be associated with childhood glaucoma include Axenfeld-Reiger Syndome, aniridia, Sturge-Weber Syndrome, neurofibromatosis, chronic steroid use, trauma, or previous eye surgery such as childhood cataract removal. Not all patients with these conditions will develop glaucoma, but their incidence of glaucoma is much higher than average and they should be monitored regularly.

How common is pediatric glaucoma?

Childhood glaucoma is relatively rare. Primary congenital/ primary infantile glaucoma occurs in the general population at a rate of approximately 1 in 10,000 births. However, if a child has cataract surgery or one of the other conditions listed above, the incidence of glaucoma will be much higher. For example, 50% of patients with aniridia will develop glaucoma during their lifetime.

Is pediatric glaucoma hereditary?

Some types of pediatric glaucoma are hereditary. About 10% of primary congenital/infantile glaucoma cases are inherited. Recent research has identified specific gene mutations linked to this disease; genetic testing and counseling for affected families is available. In the future, there may be genetic therapies available.

Other secondary glaucoma conditions such as neurofibromatosis and aniridia are dominantly inherited and are passed on to children about 50% of the time.

What are the symptoms of congenital/infantile glaucoma?

The most common symptoms of congenital/infantile glaucoma are excessive tearing, light sensitivity and a large, cloudy cornea ( the normally clear front surface of the eye) which can cause the iris (colored part of the eye) to appear dull. Excessive tearing accompanied by mattering/discharge in a child is usually not caused by glaucoma but instead is the result of congenital nasolacrimal duct obstruction (blocked tear duct).

Enlarged, cloudy corneas in a child with congenital glaucoma.

How frequent is primary congenital glaucoma?

  • 1 out of 10,000 babies is affected.
  • It affects both eyes in 2/3rds of cases. It affects males twice as often as females and has no racial preference

Does it affect high acuity, central vision?

Half of the patients will have visual acuity better than 20/50. But 2%-15% of the affected patients may become legally blind (vision less than 20/400 or restricted tunnel vision).

Is it inheritable? If I have it what are the chances my child will have it?

Genetic inheritance of congenital glaucoma is complex. Several genetic mutations have been discovered in patients with congenital glaucoma. Probably others will be discovered in the future. There are some cases in which there is autosomal recessive inheritance (both parents must have the defective gene) and some in which there is autosomal dominant (only one defective gene is necessary).

If there is no family history and a parent is affected, then there is a 5% chance the 1st child will be affected and a 5% that the second child will have the disease. If the first two children are affected then each subsequent child has 25% chance of being affected.

What do I usually see in my child?

The classic three symptoms of congenital glaucoma are tearing (epiphora), bothered by light (photophobia) and eyelid spasm (blepharospasm).

  • In addition, an enlarged eye(s) (buphthalmos) may be noted.
  • The cornea may appear cloudy and swollen (corneal edema). Horizontal or concentric streaks may be seen. (Haab’s striae)
  • The optic nerve has an abnormal appearance (cupped). Only your eye doctor can see that.
  • The pressure inside the eye is elevated usually in the 30 to 40 mmHg range. Normal is less than 16 mmHg in children. Only your eye doctor can determine that.

Other diseases can give tearing (tear duct obstruction, conjuctivitis (pink eye), corneal abrasions..), eye/corneal enlargement (X-linked megalocornea, protruding eye (exophthalmos), nearsighted…), cloudy corneas (dystrophies, infections, congenital anomalies, metabolic disorders, skin disorders, birth trauma…) and optic nerve anomalies (colobomas, pits, hypoplasia…). Only your eye doctor can make a definitive diagnosis of congenital glaucoma.

How is congenital glaucoma treated?

The primary treatment is surgical and much less medical (eye drops).

Procedures like goniotomy, trabeculotomy and trabeculectomy are performed to increase the outflow of the eye fluid and DROP the pressure inside the eye.

In cases not responding to the techniques described above, your doctor may implant a special device (valve or tube) to help with the outlflow (draining) of eye fluid and lower the pressure.

If the above techniques fail your doctor may destroy the production site for the eye fluid (ciliary body) by laser treatment (cyclophotocoagulation) or application of a very cold probe (cryotherapy).

Medical treatment involves the application of eye drops and/or pills or liquid taken by mouth.

Medical therapy is used while waiting for the surgery, and it may be used afterwards to supplement.

What is the prognosis?

There is good prognosis in 80-90% of the patients if caught early.

Some patients may have complications FROM this disease such as: amblyopia (developing a lazy eye), becoming nearsighted, developing retina detachment, astigmatism (irregular cornea) and lens dislocation.

What to Expect

Thousands of children with glaucoma can live full lives. This is the ultimate goal of glaucoma management. Although lost vision cannot be restored, it is possible to optimize each child’s remaining vision. Equally important is to encourage your child’s independence and participation in his or her own self-care.

Source & More Info: AAPOS, Glaucoma Research Foundation and DJO.Harvard.edu

 

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