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ORPHA:284454

Acute zonal occult outer retinopathy

high confidenceDisorder

Also known as: AZOOR

Publications

550

86.6th percentile

Trials

1

Interventional, condition-specific

Researchers

917

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (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.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

2/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    550 matched papers (347 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov (1 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

550

550 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

550 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

347 in the last 10 years · high confidence · 86.6th percentile (publications denominator)

Phrase hits: 550 · MeSH hits: 5

Open Europe PMC search

Who's working on it?

917

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Bandello F5 papers · 2026

    Department of Ophthalmology, San Raffaele Scientific Institute, IRCCS Ospedale San Raffaele, Vita-Salute San Raffaele University, Milan, Italy.

    Papers in Europe PMC
  2. 02
    Yannuzzi LA5 papers · 2023

    Vitreous-Retina-Macula Consultants of New York, New York, NY, USA; LuEsther T. Mertz Retinal Research Center, Manhattan Eye, Ear, and Throat Institute, New York, NY, USA; Edward S. Harkness Eye Institute, Columbia University, New York, NY, USA.

    Papers in Europe PMC
  3. 03
    Miserocchi E4 papers · 2026

    Department of Ophthalmology, San Raffaele Scientific Institute, IRCCS Ospedale San Raffaele, Vita-Salute San Raffaele University, Milan, Italy.

    Papers in Europe PMC
  4. 04
    Tsang SH4 papers · 2023

    Departments of Ophthalmology, and.

    Papers in Europe PMC
  5. 05
    Casalino G3 papers · 2025

    1Department of Ophthalmology, San Raffaele Scientific Institute, Vita-Salute University, Milan, Italy.

    Papers in Europe PMC
  6. 06
    Cimino L3 papers · 2026

    Immunology Eye Unit, Azienda USL IRCCS, Reggio Emilia, RE, Italy.

    Papers in Europe PMC
  7. 07
    Cirone D3 papers · 2023

    Uveitis Service, Department of Ophthalmology, Murri Hospital, Fermo, FM, Italy.

    Papers in Europe PMC
  8. 08
    De Simone L3 papers · 2026

    Department of Ophthalmology, University Campus Bio-Medico of Rome, Rome, RM, Italy.

    Papers in Europe PMC
  9. 09
    Goldstein DA3 papers · 2026

    Department of Ophthalmology, Feinberg School of Medicine, Northwestern University, Chicago, IL, United States.

    Papers in Europe PMC
  10. 10
    Hashimoto Y3 papers · 2021

    Department of Ophthalmology, Hokkaido University Graduate School of Medicine, Sapporo, Hokkaido, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

high confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Acute zonal occult outer retinopathy" OR "AZOOR"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Acute zonal occult outer retinopathy

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Acute zonal occult outer retinopathy" OR "AZOOR"

Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T12:08:14.745Z