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ORPHA:284454

Acute zonal occult outer retinopathy

high confidenceDisorder

Also known as: AZOOR

Publications

550

78.5th percentile

Trials

1

Interventional, condition-specific

Researchers

917

Distinct authors in sample

Gene link

—

Readiness

3/6

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.”

3/6 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 characterisedPresent

    24 HPO annotations (e.g. Central scotoma; Reduced visual acuity; Retinal pigment epithelial atrophy) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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)

24

Associated phenotypes · MONDO:0017298

  • Central scotoma
  • Reduced visual acuity
  • Retinal pigment epithelial atrophy
  • Visual loss
  • Photopsia

Showing 5 of 24 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

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=3967) is 59.

550 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

347 in the last 10 years · high confidence · 78.5th 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 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

high confidence · 80.1th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Acute zonal occult outer retinopathy — check Associations / patient organisations on that page.

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