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ORPHA:98963

Granular corneal dystrophy type II

low confidenceDisorder

Also known as: Avellino corneal dystrophy · GCD2 · GCDII · Granular corneal dystrophy type 2 · Granular-lattice corneal dystrophy

Publications

5,703

Trials

0

Interventional, condition-specific

Researchers

891

Distinct authors in sample

Gene link

TGFBI

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Type II granular corneal (GCDII) is a rare form of stromal corneal characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and visual impairment.

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 (5)

CGD2 · avellino corneal dystrophy · combined granular-lattice corneal dystrophy · granular corneal dystrophy type 2 · granular-lattice 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

    5,703 matched papers (4,187 in last 10 years) Source

  3. Phenotype characterisedPresent

    12 HPO annotations (e.g. Granular corneal dystrophy; Central opacification of the cornea; Visual impairment) 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)

12

Associated phenotypes · MONDO:0011855

  • Granular corneal dystrophy
  • Central opacification of the cornea
  • Visual impairment
  • Subepithelial corneal opacities
  • Corneal crystals

Showing 5 of 12 — 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)

1 associated chemical · 2 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Mitomycin · therapeutic

Pathways: Metabolism of proteins; Amyloid fiber formation

MyDisease.info · MONDO:0011855

Literature

Is anyone studying this?

5,703

5,703 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.

5,703 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).

4,187 in the last 10 years · low confidence

Phrase hits: 369 · MeSH hits: 2

Open Europe PMC search

Who's working on it?

891

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.

  1. 01
    Kim EK53 papers · 2026

    Department of Ophthalmology, Corneal Dystrophy Research Institute, Yonsei University College of Medicine, Seoul, South Korea; Institute of Vision Research, Severance Biomedical Science Institute, Brain Korea 21 Plus Project for Medical Science, Yonsei University College of Medicine, Seoul, South Korea.

    Papers in Europe PMC
  2. 02
    Kim TI31 papers · 2026

    Department of Ophthalmology, Corneal Dystrophy Research Institute, Yonsei University College of Medicine, Seoul, South Korea; Institute of Vision Research, Severance Biomedical Science Institute, Brain Korea 21 Plus Project for Medical Science, Yonsei University College of Medicine, Seoul, South Korea.

    Papers in Europe PMC
  3. 03
    Choi SI25 papers · 2023

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

    Papers in Europe PMC
  4. 04
    Jun I10 papers · 2026

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

    Papers in Europe PMC
  5. 05
    Maeng YS10 papers · 2019

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

    Papers in Europe PMC
  6. 06
    Stulting RD10 papers · 2026

    Stulting Research Center, Woolfson Eye Institute, Atlanta, GA, USA.

    Papers in Europe PMC
  7. 07
    Aldave AJ9 papers · 2022

    Stein Eye Institute, David Geffen School of Medicine at UCLA, 100 Stein Plaza, Los Angeles, CA 90095-7003, USA.

    Papers in Europe PMC
  8. 08
    Kim KS6 papers · 2015

    Emory University School of Medicine, Atlanta, GA, USA.

    Papers in Europe PMC
  9. 09
    Lee HK6 papers · 2021

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

    Papers in Europe PMC
  10. 10
    Cho HS5 papers · 2011
    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 Granular corneal dystrophy type II — 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.

("Granular corneal dystrophy type II" OR "Avellino corneal dystrophy" OR "GCDII" OR "Granular corneal dystrophy type 2" OR "Granular-lattice corneal dystrophy" OR "combined granular-lattice corneal dystrophy") OR (MESH:"Corneal dystrophy Avellino type") OR ("TGFBI" OR "TGFBI syndrome" OR "TGFBI-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Corneal dystrophy Avellino type

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

"Granular corneal dystrophy type II" OR "Avellino corneal dystrophy" OR "GCDII" OR "Granular corneal dystrophy type 2" OR "Granular-lattice corneal dystrophy" OR "combined granular-lattice corneal dystrophy" OR "Corneal dystrophy Avellino type"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: GCD2; CGD2

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 (5703) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T05:48:21.385Z