Congenital and juvenile glaucoma

What are congenital and juvenile glaucoma?

Congenital glaucoma is a congenital disease. The intraocular pressure may be elevated. The eye disease becomes apparent at birth or within the first few weeks of life. In the majority of cases, glaucoma affects both eyes, but is often not equally severe. Typical signs of the eye disease are tearing of the eyes, eyelid spasm and photophobia. The eyes appear enlarged, which led to the name buphthalmia or buphthalmus (= bull’s eye). The cornea may also appear cloudy. Glaucoma itself is also called glaucoma.

The causes of congenital glaucoma are not yet fully understood. This is probably due to a maldevelopment of the drainage system in the eye at the end of pregnancy and around the time of birth. If the aqueous humor cannot drain sufficiently, the intraocular pressure increases or the eye grows more. This damages the optic nerve. Scientists assume that genes are involved in congenital glaucoma. Because in some families it occurs more frequently. Doctors must treat the eye disease as quickly as possible – usually with the help of an operation. Without treatment, the young patients’ vision deteriorates – in the worst case, they lose their sight further and are at risk of going blind.

Juvenile glaucoma, on the other hand, affects children, adolescents and young adults. Patients usually have no symptoms at first and do not notice the increased intraocular pressure. The eye disease is often discovered by chance during a routine examination. It always appears in both eyes, but can be asymmetrical. Without treatment, the intraocular pressure gradually increases and irreversibly damages the optic nerve. Visual acuity decreases and visual field loss or even blindness can occur.

Doctors classify glaucoma according to age:

• Congenital glaucoma: Appears at birth or in the first month of life.
• Infantile glaucoma: Develops from the second month of life until the age of two.
• Juvenile glaucoma: Appears from the age of two until adulthood.

Congenital and juvenile glaucoma – frequency and age

Congenital glaucoma is a rare disease, but is the most common glaucoma in childhood. Doctors estimate that there is one case for every 10,000 to 18,000 births. Males are more frequently affected than females (ratio of around 3:2). In 70 to 80 percent of patients, both eyes are affected, but often to varying degrees. Congenital glaucoma is responsible for two to 15 percent of blindness in children.

Juvenile glaucoma is also comparatively rare. Increased intraocular pressure usually occurs between the ages of 10 and 35. On average, patients are 18 years old when they are diagnosed. The frequency can also only be estimated: According to the Gutenberg Health Study (2017), around 1 in 44,000 people in Germany suffer from it. In the USA, experts estimate the figures at 1 case in 50,000. These figures can presumably also be applied to Switzerland to a certain extent.

Congenital and juvenile glaucoma: causes

The causes of congenital glaucoma are not yet fully understood. It is likely that at the end of pregnancy or shortly after birth, certain structures of the eye – the chamber angle or the trabecular meshwork – are not sufficiently mature. As a result, the aqueous humor cannot drain properly in the angle between the iris (iris) and the cornea (cornea) in the trabecular meshwork. The trabecular meshwork is a loose tissue and serves as the main drain for the aqueous humor of the eye. Under the microscope, this structure looks like a sponge. However, because the production of aqueous humor still functions normally, the intraocular pressure rises if the outflow is reduced.

How increased intraocular pressure develops

The ciliary body constantly produces new aqueous humor. It provides nutrients for the cornea and lens. If this fluid cannot drain away sufficiently, excess pressure builds up in the eye, which also extends to the vitreous humor. This in turn is pressed onto the retina and ultimately squeezes the sensitive nerve fibers of the optic nerve. This is the beginning of glaucoma. If the pressure persists for a long time, damage to the optic nerve is inevitable. They can no longer be repaired and there is a risk of blindness.

The causes of this aqueous humor outflow disorder may lie in the genes . Parents can pass on a predisposition to congenital glaucoma to their children. Scientists have already found various altered (mutated) genes in affected families that are associated with congenital glaucoma. The gene mutations affect, for example, genes called CYP1B1, PITX2, PITX3, FOXC1, FOXE3, PAX6, LMX1B, MAF and MYOC. In many children, however, glaucoma develops sporadically, i.e. occasionally. They have not inherited congenital glaucoma from their parents.

Juvenile glaucoma: Causes

The causes of juvenile glaucoma are similar to those of the congenital variant: the outflow of aqueous humor through the trabecular meshwork into Schlemm’s canal (the outflow canal) is impaired. However, the increase in pressure in the eye only occurs later. The chamber angle and trabecular meshwork are probably more mature, so that the increased intraocular pressure only becomes noticeable later. Infantile glaucoma is probably similar. Because the drainage system is partially mature, intraocular pressure can still be normal in the first few years of life. The pressure then slowly increases over the course of childhood. Juvenile glaucoma is relatively often inherited. Doctors have identified mutations in the CYP1B1 and MYOC genes.

Symptoms: Congenital and juvenile glaucoma

The symptoms of congenital glaucoma are difficult to recognize because newborns, babies and small children are not yet able to communicate their symptoms. It is therefore most important that parents are particularly attentive to their children and ask their doctor for advice immediately if they notice any abnormalities. These symptoms may indicate congenital glaucoma:

• Your child is restless, fussy, keeps grabbing its eyes with its hands and rubbing them, whines or cries – increased intraocular pressure can be painful.
• Your child has unusually large eyes – this is the result of increased intraocular pressure.
• Photophobia – your baby avoids looking at the light.
• Watery eyes/teardrops (epiphora) – the eyes appear red and watery.
• Eyelid spasm (blepharospasm) – Your baby often closes its eyelids convulsively.

The symptoms usually affect both eyes, but usually not to the same extent. Children over the age of three with infantile glaucoma often develop short-sightedness (myopia), which continues to progress. Without treatment, children can go blind because the optic nerve continues to be damaged.

In juvenile glaucoma, there are usually no symptoms at first. Doctors often discover increased intraocular pressure by chance during a routine examination. As juvenile glaucoma progresses, vision usually deteriorates considerably. Patients also experience restrictions in their field of vision. They can still see things and people in the center of their field of vision, but not objects further out. Spatial perception is therefore restricted. This can be noticeable when climbing stairs or in traffic, for example.

Congenital and juvenile glaucoma: diagnosis with us

Congenital glaucoma is very rare. Nevertheless, doctors can usually make the diagnosis quickly. Early diagnosis and prompt treatment is very important for this eye disease. This is because damage to the optic nerve can cause children to go blind.

Signs and symptoms that indicate congenital glaucoma are important for the diagnosis. Parents can provide information, but doctors also observe and examine the child very closely. Warning signs can be, for example, overly large and watery eyes, photophobia and squinting.

Examining the eyes of babies and small children is more difficult than for adults. If congenital glaucoma is suspected, doctors often carry out examinations under anesthesia. This allows them to determine the eye pressure without squinting and examine all sections of the eye for changes.

The most important diagnostic methods are

• Measurement of the corneal diameter (vertical and horizontal)
• Pachymetry: measurement of corneal thickness
• Tonometry: a measurement of intraocular pressure, which can be prone to errors in babies and small children. This applies to both awake and anesthetized children. One option for awake children is so-called rebound tonometry, which is only of short duration and does not require anesthetic eye drops. There are other tonometry procedures, such as applanation tonometry right at the beginning of anesthesia.
• Ophthalmoscopy (ophthalmoscopy, fundoscopy): Doctors examine the eyes with a special instrument, the ophthalmoscope (a type of microscope with a light source). The eye is greatly enlarged and ophthalmologists can easily recognize all structures and changes. Special attention is paid to the optic nerve head (optic disc).
• Ultrasound examination (sonography): Doctors measure the length of the eyeballs. Ultrasound is suitable for both diagnosis and follow-up.
• Gonioscopy: This method can be used to examine the chamber angle. A special contact glass, the gonioscope, is used. Depending on the examination method – direct or indirect – there are different types of contact glasses.
• Visual field measurement (perimetry): for older children

In addition, prenatal diagnostics can be useful in families with an increased risk of glaucoma. Doctors determine the risk of the disease here if there are known mutations in families that lead to congenital glaucoma. Genetic counseling is another way to better assess the risk of the disease. However, it should be noted that genes do not play a role in all those affected. Cases of the disease can also occur sporadically.

In the diagnosis of juvenile glaucoma, similar procedures are used as for congenital glaucoma. However, they are often easier to carry out than with babies and small children. Doctors also carry out an eye test, which provides indications of short-sightedness. A restricted field of vision can also often be detected from school age.

Genetic counseling can also be helpful. This is because juvenile glaucoma is inherited in many cases. For example, human geneticists and skin geneticists can determine the risk of disease for family members.

Congenital and juvenile glaucoma: prevention, early detection, prognosis

The causes of congenital glaucoma are not yet precisely known. In many cases the eye disease develops sporadically, sometimes it is hereditary. However, you have no influence on the genes. You therefore cannot prevent congenital glaucoma. The same applies to juvenile glaucoma.

However, it is important for early detection that you consult a doctor as soon as you notice the first symptoms. She or he can get to the bottom of the cause of the eye problems. In this way, you can prevent the intraocular pressure from rising, becoming too high in the long term and gradually damaging the optic nerve. If doctors make the diagnosis in good time and treat congenital glaucoma in good time, you can prevent blindness.

For families in which this type of glaucoma occurs, genetic diagnosis and counseling is an option. This makes it easier to determine the risk of disease.

Progression and prognosis of congenital and juvenile glaucoma

The course and prognosis of congenital glaucoma cannot be predicted in general terms, but vary from person to person. Both depend crucially on when doctors diagnose the eye disease and when they treat the glaucoma. The earlier treatment begins, the better the prognosis. This means that the optic nerve has not yet been damaged, vision is preserved and blindness can often be avoided. Most patients whose glaucoma was successfully treated in childhood go on to have good intraocular pressure, a stable optic nerve and no visual field restrictions.

The prognosis for juvenile glaucoma is more favorable – provided that doctors diagnose the eye disease quickly and treat it in good time.

Congenital and juvenile glaucoma: Treatment

The treatment of congenital glaucoma consists of an operation. Medication that lowers intraocular pressure usually does not work sufficiently or permanently. Surgery should be performed as soon as possible after diagnosis to prevent damage to the eye and optic nerve. This is particularly true if the eye disease is severe and the eye pressure is very high. There are several surgical techniques. The aim of all surgical methods is to improve the outflow of aqueous humor and thus reduce intraocular pressure.