Autosomal dominant keratitis

What it is

From: Orphanet

A rare genetic inflammatory corneal disorder characterized by anterior stromal corneal opacification and vascularization of the peripheral cornea with potential central progression and subsequent reduction in visual acuity. Variable features include abnormalities of the iris, such as stromal defects and ectropion uveae, as well as foveal hypoplasia.

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.

Keratitis · Obligate (100%)

Inflammation of the cornea.

Abnormality of refraction · Frequent (79-30%)

An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.

Abnormality of the corneal limbus · Frequent (79-30%)

An anomaly of the margin of the cornea overlapped by the sclera.

Corneal neovascularization · Frequent (79-30%)

Ingrowth of new blood vessels into the cornea.

Hypoplasia of the fovea · Frequent (79-30%)

Underdevelopment of the fovea centralis.

Hypoplastic iris stroma · Frequent (79-30%)

Underdevelopment of the stroma of iris.

Limbal stem cell deficiency · Frequent (79-30%)

A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus.

Macular hypoplasia · Frequent (79-30%)

Underdevelopment of the macula lutea.

Opacification of the corneal stroma · Frequent (79-30%)

Reduced transparency of the stroma of cornea.

Reduced visual acuity · Frequent (79-30%)

Aniridia · Occasional (29-5%)

Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris.

Bilateral microphthalmos · Occasional (29-5%)

A developmental anomaly characterized by abnormal smallness of both eyes.

Cataract · Occasional (29-5%)

A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.

Coloboma · Occasional (29-5%)

A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.

Other findings in the same source

From: Orphanet

Additional reported features include Congenital nystagmus (Occasional (29-5%)); Microcornea (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Childhood

Inheritance in the source

From: Orphanet

Autosomal dominant

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 Autosomal dominant keratitis 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 Autosomal dominant keratitis. 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.