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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 2 strategies returned hits (phrase).

Publications

956

83.4th percentile

Trials

1

Interventional, condition-specific

Researchers

939

Distinct authors in sample

Gene link

CHST6

Definitive

Readiness

5/6

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — CHST6

  2. LiteraturePresent

    956 matched papers (507 in last 10 years) Source

  3. Phenotype characterisedPresent

    17 HPO annotations (e.g. Abnormality of metabolism/homeostasis; Photophobia; Opacification of the corneal stroma) Source

  4. Animal modelPresent

    3 genotype models (Danio rerio) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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)

17

Associated phenotypes · MONDO:0009020

  • Abnormality of metabolism/homeostasis
  • Photophobia
  • Opacification of the corneal stroma
  • Severely reduced visual acuity
  • Corneal crystals

Showing 5 of 17 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

Model associations linked to this Mondo ID

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?

956

956 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

956 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).

507 in the last 10 years · medium confidence · 83.4th 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 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

medium confidence · 80.1th 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

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 4 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 4 · 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).

Uncertain / not reviewed (4)

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 Macular corneal dystrophy — 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.

("Macular corneal dystrophy" OR "Corneal dystrophy Groenouw type II" OR "Fehr corneal dystrophy") OR (MESH:"Macular dystrophy, corneal type 1") OR ("CHST6" OR "CHST6 syndrome" OR "CHST6-related")

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"

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; 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