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ORPHA:98969

Macular corneal dystrophy

medium confidenceDisorder

Also known as: Corneal dystrophy Groenouw type II · Fehr corneal dystrophy · MCD

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

Publications

465

78.6th percentile

Trials

1

Interventional, condition-specific

Researchers

939

Distinct authors in sample

Gene link

CHST6

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Macular corneal (MCD) is a rare, severe form of stromal corneal characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

corneal dystrophy Groenouw type II · macular 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 — CHST6

  2. LiteraturePresent

    465 matched papers (200 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 (CHST6).

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?

465

465 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.

465 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).

200 in the last 10 years · medium confidence · 78.6th percentile (publications denominator)

Phrase hits: 465 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

939

Distinct author names in 200 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
    Wang X8 papers · 2026

    Key Laboratory of Marine Drugs of Ministry of Education, Shandong Key Laboratory of Glycoscience and Glycotherapeutics, School of Medicine and Pharmacy, Ocean University of China, Qingdao, China

    Papers in Europe PMC
  2. 02
    Chaurasia S7 papers · 2026

    Cornea and Anterior Segment Services, LV Prasad Eye Institute, Hyderabad, Telangana, India.

    Papers in Europe PMC
  3. 03
    Li Y6 papers · 2026

    Department of Ophthalmology and Visual Science, Eye Institute, Eye and ENT Hospital, Shanghai Medical College of Fudan University, NHC Key Laboratory of myopia (Fudan University), Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai, China.

    Papers in Europe PMC
  4. 04
    Cheng J5 papers · 2026

    Qingdao University Medical College, Qingdao Eye Hospital, Shandong Eye Institute, Shandong Academy of Medical Sciences, Qingdao, China.

    Papers in Europe PMC
  5. 05
    Ghosh A5 papers · 2024

    GROW Research Laboratory, Narayana Nethralaya Foundation, Bengaluru, India; Singapore Eye Research Institute, Singapore. Electronic address: arkasubhra@narayananethralaya.com.

    Papers in Europe PMC
  6. 06
    Li G5 papers · 2026

    Key Laboratory of Marine Drugs of Ministry of Education, Shandong Key Laboratory of Glycoscience and Glycotherapeutics, School of Medicine and Pharmacy, Ocean University of China, Qingdao, China

    Papers in Europe PMC
  7. 07
    Wylegala E5 papers · 2023

    Ophthalmology Clinic, Medical University of Silesia, 40-760 Katowice, Poland.

    Papers in Europe PMC
  8. 08
    Xie L5 papers · 2026

    Eye Institute of Shandong First Medical University, Qingdao Eye Hospital of Shandong First Medical University, Qingdao, China

    Papers in Europe PMC
  9. 09
    Zhang BN5 papers · 2026

    Eye Institute of Shandong First Medical University, Qingdao Eye Hospital of Shandong First Medical University, Qingdao, 266071, China.

    Papers in Europe PMC
  10. 10
    Alkatan HM4 papers · 2024

    Department of Pathology and Laboratory Medicine, KKESH, Riyadh, Saudi Arabia.

    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. 35 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

35

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.

"Macular corneal dystrophy" OR "Corneal dystrophy Groenouw type II" OR "Fehr corneal dystrophy"

Run this search on Europe PMC

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

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

"Macular corneal dystrophy" OR "Corneal dystrophy Groenouw type II" OR "Fehr corneal dystrophy" OR "Macular dystrophy, corneal type 1" OR "CHST6"

Recall-expansion terms: CHST6

Interventional trials matched via: phrase (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 · 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: MCD

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 2026-07-27T05:49:02.919Z