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ORPHA:98961

Reis-Bücklers corneal dystrophy

low confidenceDisorder

Also known as: Anterior limiting membrane dystrophy type 1 · Anterior limiting membrane dystrophy type I · Atypical granular corneal dystrophy · Corneal dystrophy of Bowman layer type 1 · Corneal dystrophy of Bowman layer type I · Geographic corneal dystrophy · Granular corneal dystrophy type 3 · Granular corneal dystrophy type III · RBCD · Superficial granular corneal dystrophy

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

Publications

5,573

Trials

0

Interventional, condition-specific

Researchers

774

Distinct authors in sample

Gene link

TGFBI

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Reis-Bücklers corneal (RBCD), also known as granular corneal type III, is a rare form of superficial corneal characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with visual impairment.

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 (10)

Reis-Bucklers corneal dystrophy · anterior limiting membrane dystrophy type 1 · anterior limiting membrane dystrophy type I · atypical granular corneal dystrophy · corneal dystrophy of Bowman layer type 1 · corneal dystrophy of Bowman layer type I · geographic corneal dystrophy · granular corneal dystrophy type 3 · granular corneal dystrophy type III · superficial granular corneal dystrophy

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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — TGFBI

  2. LiteraturePresent

    5,573 matched papers (4,128 in last 10 years) Source

  3. Phenotype characterisedPresent

    8 HPO annotations (e.g. Opacification of the corneal stroma; Corneal opacity; Strabismus) Source

  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 trialPartial

    None under the specific name; 38 for broader category corneal dystrophy

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 (TGFBI).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

8

Associated phenotypes · MONDO:0012043

  • Opacification of the corneal stroma
  • Corneal opacity
  • Strabismus
  • Reduced visual acuity
  • Palpebral edema

Showing 5 of 8 — open Monarch for the full list.

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?

5,573

5,573 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.

5,573 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).

4,128 in the last 10 years · low confidence

Phrase hits: 169 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

774

Distinct author names in 169 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
    Kim EK9 papers · 2026

    Department of Ophthalmology, Corneal Dystrophy Research Institute, Yonsei University College of Medicine, Seoul, South Korea.

    Papers in Europe PMC
  2. 02
    Klintworth GK8 papers · 2011

    Department of Pathology, Duke University Medical Center, Durham, North Carolina 27710, USA. klint001@mc.duke.edu

    Papers in Europe PMC
  3. 03
    Aldave AJ7 papers · 2022

    Jules Stein Eye Institute, University of California, Los Angeles, CA 90095, USA. aldave@jsei.ucla.edu

    Papers in Europe PMC
  4. 04
    Kinoshita S6 papers · 2019

    Department of Frontier Medical Science and Technology for Ophthalmology, Kyoto, Japan.

    Papers in Europe PMC
  5. 05
    Mashima Y6 papers · 2005

    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.

    Papers in Europe PMC
  6. 06
    Yamada M5 papers · 2001
    Papers in Europe PMC
  7. 07
    Enghild JJ4 papers · 2019

    Department of Molecular Biology and Genetics, Aarhus University, 8000 Aarhus, Denmark jje@mbg.au.dk.

    Papers in Europe PMC
  8. 08
    Fujiki K4 papers · 2005

    Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan.

    Papers in Europe PMC
  9. 09
    Kanai A4 papers · 2005
    Papers in Europe PMC
  10. 10
    Kim TI4 papers · 2026

    Department of Ophthalmology, Institute of Vision Research, Severance Hospital, Yonsei University College of Medicine, Seoul 03722, Korea.

    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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 38 trials are registered for corneal dystrophy, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

38 interventional trials matched corneal dystrophy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: corneal dystrophy

38

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 2026-07-30

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).

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 Reis-Bücklers corneal dystrophy — 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.

("Reis-Bücklers corneal dystrophy" OR "Anterior limiting membrane dystrophy type 1" OR "Anterior limiting membrane dystrophy type I" OR "Atypical granular corneal dystrophy" OR "Corneal dystrophy of Bowman layer type 1" OR "Corneal dystrophy of the Bowman layer type 1" OR "Corneal dystrophy of Bowman layer type I" OR "Corneal dystrophy of the Bowman layer type I" OR "Geographic corneal dystrophy" OR "Granular corneal dystrophy type 3" OR "Granular corneal dystrophy type III" OR "Superficial granular corneal dystrophy" OR "Reis-Bucklers corneal dystrophy") OR (MESH:"Corneal dystrophy of Bowman layer, type 1") OR ("TGFBI" OR "TGFBI syndrome" OR "TGFBI-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Corneal dystrophy of Bowman layer, type 1

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

"Reis-Bücklers corneal dystrophy" OR "Anterior limiting membrane dystrophy type 1" OR "Anterior limiting membrane dystrophy type I" OR "Atypical granular corneal dystrophy" OR "Corneal dystrophy of Bowman layer type 1" OR "Corneal dystrophy of the Bowman layer type 1" OR "Corneal dystrophy of Bowman layer type I" OR "Corneal dystrophy of the Bowman layer type I" OR "Geographic corneal dystrophy" OR "Granular corneal dystrophy type 3" OR "Granular corneal dystrophy type III" OR "Superficial granular corneal dystrophy" OR "Reis-Bucklers corneal dystrophy" OR "Corneal dystrophy of Bowman layer, type 1"

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

Parent-category trials query:

"corneal dystrophy"

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: RBCD

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 (5573) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T05:48:01.144Z