Congenital glaucoma

What it is

From: Orphanet

A rare ophthalmic disorder characterized by an elevated intra-ocular pressure. The clinical presentation frequently associates an increase in the size of the eye, as well as corneal edema.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Corneal stromal edema · Very frequent (99-80%)

Abnormal accumulation of fluid and swelling of the stroma of cornea.

Glaucoma · Very frequent (99-80%)

Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.

Abnormal Descemet membrane morphology · Frequent (79-30%)

Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium.

Blepharospasm · Frequent (79-30%)

A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.

Buphthalmos · Frequent (79-30%)

Diffusely large eye (with megalocornea) associated with glaucoma.

Corneal opacity · Frequent (79-30%)

A reduction of corneal clarity.

Deep anterior chamber · Frequent (79-30%)

Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased.

Epiphora · Frequent (79-30%)

Abnormally increased lacrimation, that is, excessive tearing (watering eye).

Iris atrophy · Frequent (79-30%)

Loss of iris tissue (atrophy)

Megalocornea · Frequent (79-30%)

An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age.

Ocular hypertension · Frequent (79-30%)

Intraocular pressure that is 2 standard deviations above the population mean.

Photophobia · Frequent (79-30%)

Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.

Reduced anterior scleral thickness · Frequent (79-30%)

A reduction in the height of the anterior portion of the sclera.

Amblyopia · Occasional (29-5%)

Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.

Other findings in the same source

From: Orphanet

Additional reported features include Anisometropia (Occasional (29-5%)); Iridodonesis (Occasional (29-5%)); Myopia (Occasional (29-5%)); Visual loss (Occasional (29-5%)); Reduced visual acuity (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Infancy; Neonatal

Inheritance in the source

From: Orphanet

Autosomal dominant; Autosomal recessive; Not applicable

Frequency and the population described

From: Orphanet

Prevalence at birth: 1-9 / 100 000; Europe; Value and class. Prevalence at birth: 1-9 / 100 000; Belgium; Value and class. Prevalence at birth: 1-9 / 100 000; France; Value and class. Prevalence at birth: 1-9 / 100 000; Malta; Value and class.

Which doctor should you see?

The suggested department for discussing Congenital glaucoma is Ophthalmology, with a ophthalmologist as the relevant type of clinician. Ophthalmologist; paediatric services for children as appropriate.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Which part of the eye or visual pathway is affected?
• What change in vision requires immediate contact with the eye service?
• What are the aims and alternatives of any proposed eye treatment?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Congenital glaucoma. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.