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ORPHA:708

Peters anomaly

low confidenceDisorder

Also known as: Peters congenital glaucoma

Publications

28,858

Trials

0

Interventional, condition-specific

Researchers

906

Distinct authors in sample

Gene link

PAX6, PITX2

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Peters anomaly (PA) is a corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

Peters anomaly (disease) · anterior segment dysgenesis 5, multiple subtypes

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — PAX6, PITX2

  2. LiteraturePresent

    28,858 matched papers (16,880 in last 10 years) Source

  3. Phenotype characterisedPresent

    23 HPO annotations (e.g. Anterior synechiae of the anterior chamber; Developmental glaucoma; Strabismus) Source

  4. Animal modelPresent

    5 genotype models (Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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?

Yes — we know a specific gene responsible (PAX6, PITX2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

23

Associated phenotypes · MONDO:0011414

  • Anterior synechiae of the anterior chamber
  • Developmental glaucoma
  • Strabismus
  • Subcapsular cataract
  • Opacification of the corneal stroma

Showing 5 of 23 — open Monarch for the full list.

Animal models (Monarch / Alliance)

5

Model associations linked to this Mondo ID

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)

1 associated chemical · 12 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Warfarin · marker/mechanism

Pathways: Signaling pathways regulating pluripotency of stem cells; Maturity onset diabetes of the young; Developmental Biology; Regulation of beta-cell development; Regulation of gene expression in beta cells; Peptide hormone metabolism; Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1); Metabolism of proteins

MyDisease.info · MONDO:0011414

Literature

Is anyone studying this?

28,858

28,858 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

28,858 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).

16,880 in the last 10 years · low confidence

Phrase hits: 1,092 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

906

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

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Reis LM13 papers · 2026

    Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin.

    Papers in Europe PMC
  2. 02
    Semina EV13 papers · 2026

    Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin.

    Papers in Europe PMC
  3. 03
    Bohnsack BL7 papers · 2026

    Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, 225 E. Chicago Ave, Chicago, IL 60611, USA.

    Papers in Europe PMC
  4. 04
    Kaushik S7 papers · 2025

    Advanced Eye Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

    Papers in Europe PMC
  5. 05
    Nischal KK6 papers · 2024

    Division of Paediatric Ophthalmology, Strabismus, and Adult Motility, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA.

    Papers in Europe PMC
  6. 06
    Ramappa M6 papers · 2025

    Institute for Rare Eye Diseases and Ocular Genetics; The Cornea Institute; Jasti V Ramanamma Children's Eye Care Center, L V Prasad Eye Institute, Hyderabad, India.

    Papers in Europe PMC
  7. 07
    Edward DP5 papers · 2026

    University of Illinois Eye and Ear Infirmary, Chicago, IL, USA.

    Papers in Europe PMC
  8. 08
    Schneider A5 papers · 2026

    Division of Medical Genetics, Einstein Medical Center, Philadelphia, Pennsylvania, USA.

    Papers in Europe PMC
  9. 09
    Bardakjian T4 papers · 2026

    Division of Medical Genetics, Einstein Medical Center, Philadelphia, Pennsylvania, USA.

    Papers in Europe PMC
  10. 10
    Franco E4 papers · 2026

    Division of Paediatric Ophthalmology, Strabismus, and Adult Motility, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · dropped 0 · fetched 2026-07-29

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 (3)

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 Peters anomaly — 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.

("Peters anomaly" OR "Peters congenital glaucoma" OR "Peters anomaly (disease)" OR "anterior segment dysgenesis 5, multiple subtypes") OR ("PAX6" OR "PAX6 syndrome" OR "PAX6-related" OR "PITX2" OR "PITX2 syndrome" OR "PITX2-related")

Run this search on Europe PMC

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

"Peters anomaly" OR "Peters congenital glaucoma" OR "Peters anomaly (disease)" OR "anterior segment dysgenesis 5, multiple subtypes"

Study-type breakdown: 0 interventional · 1 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

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (28858) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T14:59:11.233Z