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ORPHA:98964

Lattice corneal dystrophy type I

low confidenceDisorder

Also known as: Biber-Haab-Dimmer dystrophy · Classic lattice corneal dystrophy · LCD1 · LCDI · Lattice corneal dystrophy type 1

Publications

5,562

Trials

0

Interventional, condition-specific

Researchers

736

Distinct authors in sample

Gene link

TGFBI

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Type I lattice corneal (LCDI) is a frequent form of stromal corneal characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with visual impairment and no systemic manifestations.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

Lcd1 · classic lattice corneal dystrophy · lattice corneal dystrophy type 1

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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — TGFBI

  2. LiteraturePresent

    5,562 matched papers (4,125 in last 10 years) Source

  3. Phenotype characterisedPresent

    20 HPO annotations (e.g. Abnormal cornea morphology; Lattice corneal dystrophy; Central opacification of the cornea) 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 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?

Yes — we know a specific gene responsible (TGFBI).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

20

Associated phenotypes · MONDO:0007380

  • Abnormal cornea morphology
  • Lattice corneal dystrophy
  • Central opacification of the cornea
  • Recurrent corneal erosions
  • Corneal opacity

Showing 5 of 20 — 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?

5,562

5,562 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.

5,562 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).

4,125 in the last 10 years · low confidence

Phrase hits: 148 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

736

Distinct author names in 148 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
    Klintworth GK11 papers · 2014

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

    Papers in Europe PMC
  2. 02
    Kinoshita S7 papers · 2023

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

    Papers in Europe PMC
  3. 03
    Enghild JJ6 papers · 2015

    Department of Molecular Biology and Genetics, Aarhus University, Gustav Wieds Vej 10, 8000 Aarhus C, Denmark ; Interdisciplinary Nanoscience Center (iNANO) and Center for Insoluble Protein Structures (inSPIN), Aarhus University, Gustav Wieds Vej 10, 8000 Aarhus C, Denmark.

    Papers in Europe PMC
  4. 04
    Kim EK6 papers · 2025

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

    Papers in Europe PMC
  5. 05
    Aldave AJ4 papers · 2017

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

    Papers in Europe PMC
  6. 06
    Fujiki K4 papers · 2005
    Papers in Europe PMC
  7. 07
    Hotta Y4 papers · 2001

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

    Papers in Europe PMC
  8. 08
    Kanai A4 papers · 2005
    Papers in Europe PMC
  9. 09
    Konishi M4 papers · 2000

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

    Papers in Europe PMC
  10. 10
    Lisch W4 papers · 2024

    Department of Ophthalmology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany (Dr W. Lisch, Dr Wasielica-Poslednik); the Department of Ophthalmology, Helsinki University Central Hospital, Helsinki, Finland (Dr Kivelä); the Department of Ophthalmology, University of Erlangen-Nürnberg, Erlangen, Germany (Dr Schlötzer-Schrehardt); the Department of Ophthalmology, Eberhard-Karls University of Tübingen, Tübingen, Germany (Dr Rohrbach); the Department of Ophthalmology, University of Marburg, Marburg, Germany (Dr Sekundo); the Department of Ophthalmology, Campus Virchow-Klinikum, Charité Universitaetsmedizin Berlin, Berlin, Germany (Dr Pleyer); the private practice of ophthalmology Hanau, Hanau, Germany (Dr C. Lisch); the Department of Internal Medicine III, Johannes Gutenberg University Mainz, Mainz, Germany (Dr Desuki); the Institute of Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz, Mainz, Germany (Dr Rossmann); and the Department of Ophthalmology, Louisiana State University Health Sciences Center, School of Medicine, New Orleans, Louisiana (Dr Weiss).

    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).

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.

Broader category lattice corneal dystrophy also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Broader category: lattice corneal dystrophy

0

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

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

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 Lattice corneal dystrophy type I — 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.

("Lattice corneal dystrophy type I" OR "Biber-Haab-Dimmer dystrophy" OR "Classic lattice corneal dystrophy" OR "Lattice corneal dystrophy type 1") OR (MESH:"Lattice corneal dystrophy type 1") OR ("TGFBI" OR "TGFBI syndrome" OR "TGFBI-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Lattice corneal dystrophy type 1

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

"Lattice corneal dystrophy type I" OR "Biber-Haab-Dimmer dystrophy" OR "Classic lattice corneal dystrophy" OR "Lattice corneal dystrophy type 1"

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

Parent-category trials query:

"lattice corneal dystrophy"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: LCD1; LCDI

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (5562) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T05:48:32.245Z