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ORPHA:98957

Gelatinous drop-like corneal dystrophy

medium confidenceDisorder

Also known as: GDCD · Primary familial amyloidosis of the cornea · Subepithelial amyloidosis of the cornea

Query health: suspect — Only one of 3 strategies returned hits (phrase).

Publications

311

67.2th percentile

Trials

0

Interventional, condition-specific

Researchers

976

Distinct authors in sample

Gene link

TACSTD2

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Gelatinous drop-like corneal (GDCD) is a form of superficial corneal characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

corneal amyloidosis · gelatinous drop-like corneal dystrophy · primary familial amyloidosis of the cornea · subepithelial amyloidosis of the cornea

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

  1. Gene identifiedPresent

    Definitive — TACSTD2

  2. LiteraturePresent

    311 matched papers (105 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 trialPartial

    None under the specific name; 36 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 (TACSTD2).

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?

311

311 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.

311 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).

105 in the last 10 years · medium confidence · 67.2th percentile (publications denominator)

Phrase hits: 311 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

976

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
    Kinoshita S22 papers · 2019

    Department of Ophthalmology, Kyoto Prefectural University of Medicine, 645 Kajii-cho, Hirokoji Kawaramachi, Kamigyo-ku, Kyoto 602-0841, Japan. skinoshi@ophth.kpu-m.ac.jp

    Papers in Europe PMC
  2. 02
    Nishida K17 papers · 2022

    Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.

    Papers in Europe PMC
  3. 03
    Kawasaki S13 papers · 2020

    Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan. bluenova@koto.kpu-m.ac.jp

    Papers in Europe PMC
  4. 04
    Tsujikawa M13 papers · 2020

    Department of Ophthalmology, Osaka University Medical School, Suita, Japan. moto@clgene.med.osaka-u.ac.jp

    Papers in Europe PMC
  5. 05
    Maeda N9 papers · 2020

    Department of Ophthalmology, Osaka University Graduate School of Medicine, Room E7, 2-2 Yamadaoka, Suita, Osaka, 565-0871, Japan, nmaeda@ophthal.med.osaka-u.ac.jp.

    Papers in Europe PMC
  6. 06
    Nakatsukasa M6 papers · 2019

    Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.

    Papers in Europe PMC
  7. 07
    Araki-Sasaki K5 papers · 2018

    Department of Diagnostic Medicine, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto 860-0811, Japan.

    Papers in Europe PMC
  8. 08
    Hirano K5 papers · 2018

    Department of Ophthalmology, Ban Buntane Hotokukai Hospital, School of Medicine, Fujita Health University, Nagoya, Japan.

    Papers in Europe PMC
  9. 09
    Kanai A5 papers · 2004
    Papers in Europe PMC
  10. 10
    Klintworth GK5 papers · 2009

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

    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). 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

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

medium confidence · 36.5th 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.

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

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

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.

"Gelatinous drop-like corneal dystrophy" OR "Primary familial amyloidosis of the cornea" OR "Primary familial amyloidosis of cornea" OR "Subepithelial amyloidosis of the cornea" OR "Subepithelial amyloidosis of cornea" OR "corneal amyloidosis"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Corneal dystrophy, gelatinous drop-like

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

"Gelatinous drop-like corneal dystrophy" OR "Primary familial amyloidosis of the cornea" OR "Primary familial amyloidosis of cornea" OR "Subepithelial amyloidosis of the cornea" OR "Subepithelial amyloidosis of cornea" OR "corneal amyloidosis" OR "Corneal dystrophy, gelatinous drop-like" OR "TACSTD2" OR "epithelial and subepithelial corneal dystrophy" OR "lattice corneal dystrophy" OR "superficial corneal dystrophy"

Recall-expansion terms: TACSTD2, epithelial and subepithelial corneal dystrophy, lattice corneal dystrophy, superficial corneal dystrophy

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, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: GDCD

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 2026-07-27T05:47:14.306Z