ORPHA:75377
Central areolar choroidal dystrophy
Also known as: Areolar atrophy of the macula · CACD · Central areolar choroidal sclerosis
Publications
578
84.7th percentile
Trials
1
Interventional, condition-specific
Researchers
1,251
Distinct authors in sample
Gene link
GUCY2D
Limited
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008982
- UMLS:C1536451
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Limited — GUCY2D
- LiteraturePresent
578 matched papers (299 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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?
Possibly — only limited evidence so far for GUCY2D.
GenCC classification: Limited.
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?
578
578 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=5449) is 41.
578 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).
299 in the last 10 years · medium confidence · 84.7th percentile (publications denominator)
Phrase hits: 578 · MeSH hits: 0
Who's working on it?
1,251
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.
- 01Hoyng CB9 papers · 2021
Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.
Papers in Europe PMC - 02den 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 - 03Li 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 - 04Boon CJF5 papers · 2026
Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.
Papers in Europe PMC - 05Cremers FPM5 papers · 2026
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Papers in Europe PMC - 06Fleckenstein M5 papers · 2023
Department of Ophthalmology, University of Bonn, Bonn, Germany.
Papers in Europe PMC - 07Holz FG5 papers · 2023
Department of Ophthalmology, University of Bonn, Bonn, Germany.
Papers in Europe PMC - 08Kellner 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 - 09Klevering BJ5 papers · 2024
Department of Ophthalmology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Papers in Europe PMC - 10Kohl 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?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
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.
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
- NCT02435940·RECRUITING·Inherited Retinal Degenerative Disease Registry
Conditions: Eye Diseases Hereditary · Retinal Disease · Achromatopsia · Bardet-Biedl Syndrome·Matched via name phrase
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 2026-07-26This 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"
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" OR "GUCY2D"
Recall-expansion terms: GUCY2D
Interventional trials matched via: recall-expansion (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 · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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