Holmes-Adie syndrome

What it is

From: Orphanet

A rare ophthalmic disorder characterized by the unilateral or bilateral occurrence of a tonic pupil (showing sectorial denervation of the sphincter pupillae, so that the pupil constricts poorly to light, while the response to near is present but abnormally prolonged), in association with the absence of deep tendon reflexes. In some patients, patchy hypo- or anhidrosis may also be present (a variant known as Ross syndrome). The condition typically occurs in young adults, with a female preponderance.

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.

Tonic pupil · Very frequent (99-80%)

An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation.

Abnormal pupillary light reflex · Frequent (79-30%)

An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye.

Anisocoria · Frequent (79-30%)

Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.

Areflexia · Frequent (79-30%)

Absence of neurologic reflexes such as the knee-jerk reaction.

Blurred vision · Frequent (79-30%)

Lack of sharpness of vision resulting in the inability to see fine detail.

Mydriasis · Frequent (79-30%)

Abnormal dilatation of the iris.

Anisometropia · Occasional (29-5%)

Inequality of refractive power of the two eyes.

Chronic cough · Occasional (29-5%)

A persistent cough, defined as a cough lasting longer than eight weeks in adults or longer than four weeks in children.

Hypermetropia · Occasional (29-5%)

An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.

Orthostatic hypotension · Occasional (29-5%)

A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.

Photophobia · Occasional (29-5%)

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

When it may begin

From: Orphanet

Adult

Inheritance in the source

From: Orphanet

Not applicable

Frequency and the population described

From: Orphanet

Annual incidence: 1-9 / 100 000; United States; Value and class.

Which doctor should you see?

The suggested department for discussing Holmes-Adie 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 Holmes-Adie 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.