ORPHA:1571
Knobloch syndrome
Also known as: Knobloch-Layer syndrome · Retinal detachment-occipital encephalocele syndrome
Clinical definition (Orphanet)
A rare systemic disorder characterized by vitreoretinal and macular degeneration, as well as occipital encephalocele.
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.
Is anyone studying this?
361
361 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=183) is 38.
361 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
212 in the last 10 years · low confidence
Is a treatment being tested?
0
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 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
low confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (COL18A1).
GenCC classification: Definitive.
Who's working on it?
1,193
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.
- 01
- 02
- 03Pihlajaniemi T6 papers · 2023
ECM-Hypoxia Research Unit, Faculty of Biochemistry and Molecular Medicine, University of Oulu, 90014 Oulu, Finland.
Papers in Europe PMC - 04Alsulaiman SM5 papers · 2024
King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Papers in Europe PMC - 05Ghazi NG5 papers · 2025
a Eye Institute , Cleveland Clinic Abu Dhabi , Abu Dhabi , United Arab Emirates.
Papers in Europe PMC - 06Aldahmesh MA4 papers · 2015
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Papers in Europe PMC - 07Heljasvaara R4 papers · 2023
ECM-Hypoxia Research Unit, Faculty of Biochemistry and Molecular Medicine, University of Oulu, 90014 Oulu, Finland.
Papers in Europe PMC - 08Kalsner L4 papers · 2026
Division of Genetics, Connecticut Children's, Hartford, CT 06106, USA; Department of Pediatrics, University of Connecticut School of Medicine, Farmington, CT 06030, USA; Division of Neurology, Connecticut Children's, Hartford, CT 06106, USA. Electronic address: lkalsner@connecticutchildrens.org.
Papers in Europe PMC - 09Li H4 papers · 2025
Department of Ophthalmology, Eye and Ear, Nose, and Throat Hospital, Fudan University, 83 Fenyang Road, Shanghai, 200031 China.
Papers in Europe PMC - 10Passos-Bueno MR4 papers · 2026
Centro de Estudos do Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brasil.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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 above — people publishing on this disease are often the practical next contact when no trial is listed.
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 2026-07-26This 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 below but are not added to the query string.
"Knobloch syndrome" OR "Knobloch-Layer syndrome" OR "Retinal detachment-occipital encephalocele syndrome" OR "KNOBLOCH syndrome 1" OR "Knobloch syndrome type 1" OR "Knobloch syndrome, type 1"
MeSH descriptor terms unioned into the query: Knobloch syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Knobloch syndrome" OR "Knobloch-Layer syndrome" OR "Retinal detachment-occipital encephalocele syndrome" OR "KNOBLOCH syndrome 1" OR "Knobloch syndrome type 1" OR "Knobloch syndrome, type 1" OR "COL18A1"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C537209 OMIM:267750 UMLS:C4551775
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: KNO1
Confidence reasoning
- Preferred label is short or not clearly distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus