RARE DISEASERESEARCH ATLAS

ORPHA:714160

Presumed ocular histoplasmosis syndrome

low confidenceDisorder

Also known as: POHS

Publications

437

Trials

2

Interventional, condition-specific

Researchers

946

Distinct authors in sample

Gene link

Readiness

2/6

Stages with a signal

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

Orphanet entry

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

    437 matched papers (131 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  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

    2 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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

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?

437

437 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

437 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).

131 in the last 10 years · low confidence

Phrase hits: 437 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

946

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
    Blinder KJ4 papers · 2023

    The Retina Institute, St. Louis, Mo. Electronic address: kjblinder@gmail.com.

    Papers in Europe PMC
  2. 02
    Sobrin L4 papers · 2023

    Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts.

    Papers in Europe PMC
  3. 03
    Benedict K3 papers · 2021

    Mycotic Diseases Branch, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.

    Papers in Europe PMC
  4. 04
    Ciulla TA3 papers · 2009

    Department of Ophthalmology, Indiana University School of Medicine, Indianapolis, Indiana 46260, USA.

    Papers in Europe PMC
  5. 05
    Flynn HW Jr3 papers · 2021

    Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA.

    Papers in Europe PMC
  6. 06
    Herbort CP Jr3 papers · 2022

    Retinal and Inflammatory Eye Diseases, Centre for Ophthalmic Specialized Care (COS), 1003 Lausanne, Switzerland.

    Papers in Europe PMC
  7. 07
    Jackson BR3 papers · 2021

    Mycotic Diseases Branch, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.

    Papers in Europe PMC
  8. 08
    Miller DM3 papers · 2022

    Cincinnati Eye Institute and Department of Ophthalmology, University of Cincinnati, Cincinnati, Ohio.

    Papers in Europe PMC
  9. 09
    Papasavvas I3 papers · 2022

    Retinal and Inflammatory Eye Diseases, Centre for Ophthalmic Specialized Care (COS), 1003 Lausanne, Switzerland.

    Papers in Europe PMC
  10. 10
    Yannuzzi LA3 papers · 2016

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

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

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

Data as of 11 September 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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).

Uncertain / not reviewed (2)

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 Presumed ocular histoplasmosis syndrome — 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.

"Presumed ocular histoplasmosis syndrome"

Run this search on Europe PMC

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

"Presumed ocular histoplasmosis syndrome"

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

Study-type breakdown: 2 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: POHS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • No Orphanet definition and no Mondo IDs — likely taxonomy scaffolding; confidence capped at low

Ingested 2026-07-27T21:03:58.314Z