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Eye and hearing diseases

Primary congenital glaucoma (raised eye pressure from birth)

A type of raised eye pressure present from birth in babies. The fluid in the eye cannot drain out and the pressure inside the eye rises. If not treated early, the optic nerve can be damaged.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

This page is translated from the Turkish original.

This disease is followed through the “Eye and hearing diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

A fluid is made constantly in the front part of the eye and drains out. In this disease, the channels through which the fluid drains did not develop well before birth. The fluid builds up and the pressure inside the eye rises. High pressure can damage the optic nerve, which connects the eye to the brain. This name is used when glaucoma begins before the age of 3 and without any other problem.

Which symptoms can occur?

Symptoms are usually noticed when the baby is a few months old. One or both eyes can be affected.

  • Excessive watering of the eyes
  • Sensitivity to light
  • Clouding of the front surface of the eye
  • One or both eyes being larger than normal
  • Redness of the eye
  • If not treated, loss of side vision and vision loss

How is it diagnosed?

The eye doctor measures the pressure inside the eye. The front part of the eye and the optic nerve are examined in detail. The angle through which the fluid drains can be assessed with a special lens. In some families, a genetic test can show the cause.

Treatment and care

The aim of treatment is to lower the pressure inside the eye. Glaucoma present from birth is almost always treated with surgery. The surgery is done under general anesthesia; the child is asleep and feels no pain. When surgery is done early, babies usually have good results. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

It is usually inherited recessively. For a carrier couple, the chance of an affected child in each pregnancy is 1 in 4. It is more common in the Middle East; this chance can be higher when parents are related by blood. In some families, dominant inheritance is also seen. In some patients, a change is found in the CYP1B1 gene. Genetic counselling is recommended.

Source: MedlinePlus Genetics: Early-onset glaucoma · MedlinePlus: Glaucoma (Congenital glaucoma) · Orphanet: Congenital glaucoma (ORPHA:98976)

Key facts

When does it usually start?
Infancy, Newborn period
Gene(s) involved
MYOC, LTBP2, TEK, CYP1B1

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about Congenital glaucoma

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 2 active interventional studies for this disease. None is recruiting right now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Eye and hearing diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:98976 · ICD-11 9C61.40

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.