Juvenile glaucoma

What it is

From: Orphanet

A rare primary early-onset glaucoma characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.

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.

Abnormal anterior chamber morphology · Frequent (79-30%)

Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris.

Abnormal optic nerve morphology · Frequent (79-30%)

Abnormality of the optic nerve.

Abnormality iris morphology · Frequent (79-30%)

An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil.

Ocular hypertension · Frequent (79-30%)

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

Open angle glaucoma · Frequent (79-30%)

A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure,

Peripheral visual field loss · Frequent (79-30%)

Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.

Visual impairment · Frequent (79-30%)

Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.

Glaucomatous visual field defect · Frequent (79-30%)

Optic neuropathy · Frequent (79-30%)

High myopia · Occasional (29-5%)

A severe form of myopia with greater than -6.00 diopters.

Increased cup-to-disc ratio · Occasional (29-5%)

An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disk. The optic disc has an orange-pink rim with a pale center (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells.

Temporal optic disc pallor · Occasional (29-5%)

A pale yellow discoloration of the temporal (lateral) portion of the optic disc.

Central scotoma · Very rare (<4-1%)

An area of depressed vision located at the point of fixation and that interferes with central vision.

Retinal arterial occlusion · Very rare (<4-1%)

Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina.

Other findings in the same source

From: Orphanet

Additional reported features include Retinal vein occlusion (Very rare (<4-1%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Adolescent; Childhood

Inheritance in the source

From: Orphanet

Autosomal dominant

Frequency and the population described

From: Orphanet

Point prevalence: 1-9 / 100 000; United States; Value and class.

Understanding the inheritance label

From: MedlinePlus Genetics

An autosomal dominant pattern means that one altered copy of a relevant gene can be sufficient for the condition. Some affected people inherit the change; others have a new change without an affected parent. The precise finding, family history and condition determine what this means for relatives.

Which doctor should you see?

The suggested department for discussing Juvenile 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

Where the source describes treatments, these are an overview of possible care, not a prescription for an individual. Ask which option applies to the confirmed diagnosis, what benefit is expected, what adverse effects to watch for and how progress will be assessed. Availability, approvals and local practice can differ from the country described in the source.

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.