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ORPHA:53540

Goldmann-Favre syndrome

low confidenceDisorder

Also known as: ESCS · Enhanced S-cone syndrome · Retinoschisis with early nyctalopia

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

546

Trials

1

Interventional, condition-specific

Researchers

999

Distinct authors in sample

Gene link

NR2E3

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Goldmann-Favre syndrome (GFS) is a vitreoretinal characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings ( pigmentary degenerative changes, macular edema, retinoschisis).

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)

enhanced S-cone syndrome 1 · retinoschisis with early nyctalopia

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 identifiedPresent

    Strong — NR2E3

  2. LiteraturePresent

    546 matched papers (327 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

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 (NR2E3).

GenCC classification: Strong.

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?

546

546 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.

546 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).

327 in the last 10 years · low confidence

Phrase hits: 546 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

999

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
    Banin E6 papers · 2026

    Department of Ophthalmology, Hadassah Medical Center, Jerusalem, Israel.

    Papers in Europe PMC
  2. 02
    Audo I5 papers · 2026

    Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris 75012, France isabelle.audo@inserm.fr.

    Papers in Europe PMC
  3. 03
    Fujinami K5 papers · 2026

    Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo 152-8902, Japan.

    Papers in Europe PMC
  4. 04
    Marques JP5 papers · 2026

    Centro de Responsabilidade Integrado de Oftalmologia do Centro Hospitalar e Universitário de Coimbra, EPE (CRIO-CHUC), Coimbra, Portugal.

    Papers in Europe PMC
  5. 05
    Sharon D5 papers · 2026

    Ocular Molecular Genetics Institute and the Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114, USA.

    Papers in Europe PMC
  6. 06
    Stone EM5 papers · 2025

    Institute for Vision Research, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA 52241, USA. edwin-stone@uiowa.edu.

    Papers in Europe PMC
  7. 07
    Wang Y5 papers · 2025

    McArdle Laboratory for Cancer Research, University of Wisconsin-Madison, Madison, WI, USA.

    Papers in Europe PMC
  8. 08
    Aísa-Marín I4 papers · 2023

    Departament of Genetics, Microbiology and Statistics, Avda. Diagonal 643, Universitat de Barcelona, Barcelona 08028, Spain; CIBERER, ISCIII, Universitat de Barcelona, Barcelona, Spain; Institute of Biomedicine (IBUB, IBUB-IRSJD), Universitat de Barcelona, Barcelona, Spain.

    Papers in Europe PMC
  9. 09
    Bohrer LR4 papers · 2025

    Institute for Vision Research, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA 52241, USA. laura-bohrer@uiowa.edu.

    Papers in Europe PMC
  10. 10
    Chan CM4 papers · 2026

    School of Pharmacy, University of Nottingham, Nottingham, UK.

    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; none in our sample are currently recruiting.

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).

low 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.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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

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.

"Goldmann-Favre syndrome" OR "Enhanced S-cone syndrome" OR "Retinoschisis with early nyctalopia" OR "enhanced S-cone syndrome 1"

Run this search on Europe PMC

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

"Goldmann-Favre syndrome" OR "Enhanced S-cone syndrome" OR "Retinoschisis with early nyctalopia" OR "enhanced S-cone syndrome 1" OR "NR2E3"

Recall-expansion terms: NR2E3

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: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: ESCS

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
  • Publication count (546) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T00:52:45.216Z