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ORPHA:98961

Reis-Bücklers corneal dystrophy

medium 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

Publications

169

55.8th percentile

Trials

1

Interventional, condition-specific

Researchers

774

Distinct authors in sample

Gene link

TGFBI

Definitive

Readiness

3/6

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — TGFBI

  2. LiteraturePresent

    169 matched papers (57 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 (TGFBI).

GenCC classification: Definitive.

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?

169

169 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=5449) is 41.

169 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).

57 in the last 10 years · medium confidence · 55.8th percentile (publications denominator)

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?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  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?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 36 trials are registered for corneal dystrophy, the broader category — shown separately because they may or may not enrol this specific subtype.

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).

medium 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.

Broader category: corneal dystrophy

36

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

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.

None of the matched observational studies is currently listed as 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.

"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"

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" OR "TGFBI"

Recall-expansion terms: TGFBI

Interventional trials matched via: recall-expansion (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.

Parent-category trials query:

"corneal dystrophy"

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

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

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