Iridocorneal endothelial syndrome

What it is

From: Orphanet

Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler’s syndrome, Cogan-Reese syndrome and essential iris atrophy, affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications

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 migration of corneal endothelium · Frequent (79-30%)

Abnormal migration of corneal endothelium.

Anterior synechiae of the anterior chamber · Frequent (79-30%)

Adhesions between the iris and the cornea.

Corneal stromal edema · Frequent (79-30%)

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

Ectopia pupillae · Frequent (79-30%)

A malposition of the pupil owing to a developmental defect of the iris.

Glaucoma · Frequent (79-30%)

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

Iris atrophy · Frequent (79-30%)

Loss of iris tissue (atrophy)

Progressive visual loss · Frequent (79-30%)

A reduction of previously attained ability to see.

Reduced visual acuity · Frequent (79-30%)

Abnormal pupil shape · Occasional (29-5%)

A deviation from the normal circular shape of the pupil

Central heterochromia · Occasional (29-5%)

The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone.

Hypoplastic iris stroma · Occasional (29-5%)

Underdevelopment of the stroma of iris.

Iris nevus · Occasional (29-5%)

A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated.

Polycoria · Occasional (29-5%)

Multiple pupils.

Posterior synechiae of the anterior chamber · Occasional (29-5%)

Adhesions between the iris and the lens.

Other findings in the same source

From: Orphanet

Additional reported features include Uveal ectropion (Occasional (29-5%)); Heterochromia iridis (Very rare (<4-1%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Adult

Inheritance in the source

From: Orphanet

Not applicable

Which doctor should you see?

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

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 Iridocorneal endothelial syndrome. 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.