Acute zonal occult outer retinopathy

What it is

From: Orphanet

A rare acquired retinal disorder characterised by sequential focal degeneration of photoreceptors, retinal pigment epithelium and choroid, with the majority of patients experiencing sudden onset photopsia and acute scotomas. Although patients typically retain decent visual acuity, blind spot enlargement and retinal pigment epithelial disturbances tend to develop over time. Individuals also often complain of distortion of central vision, photophobia and difficulty with night vision, with more advanced cases reporting loss of peripheral vision.

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 fundus fluorescein angiography · Frequent (79-30%)

An abnormality observed by retinal fluorescein angiography, which involves the intravenous injection of fluorescein dye followed by fluorescent imaging of the fundus immediately after injection and for up to ten minutes thereafter. It can be used to study various retinal abnormalities including especially anomalies of the choroidal and retinal circulation.

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.

Blurred vision · Frequent (79-30%)

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

Constriction of peripheral visual field · Frequent (79-30%)

An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.

Marcus Gunn pupil · Frequent (79-30%)

An aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye.

Myopia · Frequent (79-30%)

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

Photopsia · Frequent (79-30%)

Perceived flashes of light.

Scotoma · Frequent (79-30%)

A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.

Blind-spot enlargment · Frequent (79-30%)

Visual field defect · Frequent (79-30%)

Abnormal electroretinogram · Occasional (29-5%)

Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.

Central scotoma · Occasional (29-5%)

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

Hemianopia · Occasional (29-5%)

Partial or complete loss of vision in one half of the visual field of one or both eyes.

Pigmentary retinopathy · Occasional (29-5%)

An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.

Other findings in the same source

From: Orphanet

Additional reported features include Retinal pigment epithelial atrophy (Occasional (29-5%)); Retinal pigment epithelial mottling (Occasional (29-5%)); Rod-cone dystrophy (Occasional (29-5%)); Vitreous inflammatory cells (Occasional (29-5%)); Vitritis (Occasional (29-5%)); Reduced visual acuity (Occasional (29-5%)); Abnormal choroid morphology (Very rare (<4-1%)); Abnormal retinal vascular morphology (Very rare (<4-1%)); Macular drusen (Very rare (<4-1%)); Visual loss (Very rare (<4-1%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Adolescent; Adult

Inheritance in the source

From: Orphanet

Not applicable

Frequency and the population described

From: Orphanet

Reported case(s): 150.0; Worldwide. This is a published case count, not prevalence. Point prevalence: Unknown; Worldwide; Class only.

Which doctor should you see?

The suggested department for discussing Acute zonal occult outer retinopathy 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 Acute zonal occult outer retinopathy. 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.