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ORPHA:75377

Central areolar choroidal dystrophy

medium confidenceDisorder

Also known as: Areolar atrophy of the macula · CACD · Central areolar choroidal sclerosis

Publications

1,732

87.5th percentile

Trials

0

Interventional, condition-specific

Researchers

1,251

Distinct authors in sample

Gene link

GUCY2D

Limited

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a decrease in visual acuity.

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 (3)

areolar atrophy of the macula · central areolar choroidal sclerosis · choroidal 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 matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Limited — GUCY2D

  2. LiteraturePresent

    1,732 matched papers (1,024 in last 10 years) Source

  3. Phenotype characterisedPresent

    24 HPO annotations (e.g. Reduced visual acuity; Fundus hypopigmentation; Slow decrease in visual acuity) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  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?

Possibly — only limited evidence so far for GUCY2D.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

24

Associated phenotypes · MONDO:0008982

  • Reduced visual acuity
  • Fundus hypopigmentation
  • Slow decrease in visual acuity
  • Choriocapillaris atrophy
  • Perifoveal ring of hyperautofluorescence

Showing 5 of 24 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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

1

Drugs / clinical candidates · MONDO_0008982

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,732

1,732 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.

1,732 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).

1,024 in the last 10 years · medium confidence · 87.5th percentile (publications denominator)

Phrase hits: 578 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,251

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
    Hoyng CB9 papers · 2021

    Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.

    Papers in Europe PMC
  2. 02
    den Hollander AI6 papers · 2022

    Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands; AbbVie, Genomics Research Center, Cambridge, MA, USA. Electronic address: anneke.denhollander@abbvie.com.

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

    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat‑sen University, Guangzhou, Guangdong 510060, P.R. China.

    Papers in Europe PMC
  4. 04
    Boon CJF5 papers · 2026

    Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.

    Papers in Europe PMC
  5. 05
    Cremers FPM5 papers · 2026

    Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

    Papers in Europe PMC
  6. 06
    Fleckenstein M5 papers · 2023

    Department of Ophthalmology, University of Bonn, Bonn, Germany.

    Papers in Europe PMC
  7. 07
    Holz FG5 papers · 2023

    Department of Ophthalmology, University of Bonn, Bonn, Germany.

    Papers in Europe PMC
  8. 08
    Kellner U5 papers · 2025

    Zentrum für Seltene Netzhauterkrankungen, AugenZentrum Siegburg, MVZ Augenärztliches Diagnostik- und Therapiecentrum Siegburg GmbH, Europaplatz 3, 53721 Siegburg, Germany.

    Papers in Europe PMC
  9. 09
    Klevering BJ5 papers · 2024

    Department of Ophthalmology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

    Papers in Europe PMC
  10. 10
    Kohl S5 papers · 2025

    Institute for Ophthalmic Research, Center for Ophthalmology, University of Tübingen, 72076 Tübingen, Germany.

    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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.

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.

medium 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 Central areolar choroidal 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.

("Central areolar choroidal dystrophy" OR "Areolar atrophy of the macula" OR "Areolar atrophy of macula" OR "Central areolar choroidal sclerosis" OR "choroidal dystrophy") OR ("GUCY2D" OR "GUCY2D syndrome" OR "GUCY2D-related")

Run this search on Europe PMC

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

"Central areolar choroidal dystrophy" OR "Areolar atrophy of the macula" OR "Areolar atrophy of macula" OR "Central areolar choroidal sclerosis" OR "choroidal dystrophy"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CACD

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 2026-07-27T01:47:45.062Z