ORPHA:714070
Incomplete congenital stationary night blindness, Schubert-Bornschein type
Also known as: Incomplete congenital stationary night blindness · iCSNB
Publications
191
Trials
0
Interventional, condition-specific
Researchers
982
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
191 matched papers (101 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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?
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 2026-07-27
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?
191
191 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.
191 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).
101 in the last 10 years · low confidence
Phrase hits: 191 · MeSH hits: 0
Who's working on it?
982
Distinct author names in 191 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.
- 01Haeseleer F9 papers · 2015
Department of Physiology and Biophysics, University of Washington, Seattle, WA 98195, USA. fanfan@u.washington.edu
Papers in Europe PMC - 02Zeitz C8 papers · 2021
INSERM, UMR_S968, Paris F-75012, France; CNRS, UMR_7210, Paris F-75012, France; UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, Paris F-75012, France.
Papers in Europe PMC - 03Audo I7 papers · 2021
INSERM, UMR_S968, Paris F-75012, France; CNRS, UMR_7210, Paris F-75012, France; UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, Paris F-75012, France; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 503, Paris F-75012, France; UCL-Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK.
Papers in Europe PMC - 04Lee A6 papers · 2015
Department of Pharmacology and Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, Georgia 30322, USA.
Papers in Europe PMC - 05Koschak A5 papers · 2018
Synaptic Physiology of Mammalian Vestibular Hair Cells Group, Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen and Auditory Neuroscience Group, Max Planck Institute of Experimental Medicine , Göttingen, Germany ; Department of Biology, University of Maryland , College Park, Maryland ; and Pharmacology and Toxicology, Institute of Pharmacy, University of Innsbruck , Innsbruck , Austria.
Papers in Europe PMC - 06Mahroo OA5 papers · 2024
UCL Institute of Ophthalmology, University College London, London, United Kingdom; Genetics Service, Moorfields Eye Hospital, London, United Kingdom; Section of Ophthalmology, King's College London, St. Thomas' Hospital Campus, London, United Kingdom; Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, United Kingdom. Electronic address: o.mahroo@ucl.ac.uk.
Papers in Europe PMC - 07Michaelides M5 papers · 2024
UCL Institute of Ophthalmology, University College London, London, UK.
Papers in Europe PMC - 08Miyake Y5 papers · 2003
Department of Ophthalmology, Nagoya University School of Medicine, Japan.
Papers in Europe PMC - 09Tremblay F5 papers · 2005
Department of Ophthalmology, Dalhousie University, Halifax, NS.
Papers in Europe PMC - 10Bech-Hansen NT4 papers · 2010Papers 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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 9 September 2026 · last trial check 9 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.
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 2026-07-27
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 Incomplete congenital stationary night blindness, Schubert-Bornschein type — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This 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.
"Incomplete congenital stationary night blindness, Schubert-Bornschein type" OR "Incomplete congenital stationary night blindness" OR "iCSNB"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Incomplete congenital stationary night blindness, Schubert-Bornschein type" OR "Incomplete congenital stationary night blindness" OR "iCSNB"
Study-type breakdown: 0 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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- 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 2026-07-26T01:46:14.970Z