ORPHA:178333
Åland Islands eye disease
Also known as: AIED · Forsius-Eriksson syndrome · Forsius-Eriksson type ocular albinism
Publications
125
53.3th percentile
Trials
0
Interventional, condition-specific
Researchers
644
Distinct authors in sample
Gene link
CACNA1F
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
An X-linked retinal disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, axial myopia, defective dark adaptation and protanopia.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010371
- MeSH:C562664
- OMIM:300600
- UMLS:C0268505
Additional Mondo synonyms (2)
Aland island eye disease · FORSIUS-Eriksson type ocular albinism
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — CACNA1F
- LiteraturePresent
125 matched papers (50 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 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?
Yes — we know a specific gene responsible (CACNA1F).
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?
125
125 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.
125 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).
50 in the last 10 years · medium confidence · 53.3th percentile (publications denominator)
Phrase hits: 125 · MeSH hits: 2
Who's working on it?
644
Distinct author names in 125 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.
- 01Alitalo T5 papers · 2007
Department of Medical Genetics, University of Helsinki, Finland.
Papers in Europe PMC - 02Eriksson AW5 papers · 1993Papers in Europe PMC
- 03Pillers DA5 papers · 1993
Department of Pediatrics, Children's Hospital, Oregon Health Sciences University, Portland.
Papers in Europe PMC - 04de la Chapelle A4 papers · 2007Papers in Europe PMC
- 05Forsius H4 papers · 2007Papers in Europe PMC
- 06McCabe ER4 papers · 1993
Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.
Papers in Europe PMC - 07Powell BR4 papers · 1993Papers in Europe PMC
- 08Audo I3 papers · 2021
INSERM, UMR_S968, Paris F-75012, France; CNRS, UMR_7210, Paris F-75012, France; UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, Paris F-75012, France; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 503, Paris F-75012, France; UCL-Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK.
Papers in Europe PMC - 09Berkowitz BA3 papers · 2020
Dept. of Anatomy and Cell Biology, Wayne State University School of Medicine, Detroit, MI, USA; Dept. Of Ophthalmology, Wayne State University School of Medicine, Detroit, MI, USA. Electronic address: baberko@med.wayne.edu.
Papers in Europe PMC - 10Guo X3 papers · 2023
BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.
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).
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"Åland Islands eye disease" OR "Forsius-Eriksson syndrome" OR "Forsius-Eriksson type ocular albinism" OR "Aland island eye disease"
MeSH descriptor terms unioned into the query: Aland Island Eye Disease
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Åland Islands eye disease" OR "Forsius-Eriksson syndrome" OR "Forsius-Eriksson type ocular albinism" OR "Aland island eye disease" OR "CACNA1F"
Recall-expansion terms: CACNA1F
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: AIED
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 2026-07-27T08:48:28.006Z