ORPHA:247834
Occult macular dystrophy
Also known as: Miyake disease · OCMD · OMD
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
255
77.1th percentile
Trials
0
Interventional, condition-specific
Researchers
958
Distinct authors in sample
Gene link
RP1L1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Occult macular is a rare, genetic retinal disease characterized by bilateral decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013316
- OMIM:613587
- UMLS:C3150833
Additional Mondo synonyms (1)
occult macular 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.”
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 — RP1L1
- LiteraturePresent
255 matched papers (181 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 (RP1L1).
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?
255
255 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.
255 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).
181 in the last 10 years · medium confidence · 77.1th percentile (publications denominator)
Phrase hits: 255 · MeSH hits: 0
Who's working on it?
958
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.
- 01Tsunoda K22 papers · 2026
Laboratory of Visual Physiology, National Institute of Sensory Organs.
Papers in Europe PMC - 02Iwata T16 papers · 2026
Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
Papers in Europe PMC - 03Miyake Y16 papers · 2025
Department of Ophthalmology, Nagoya University School of Medicine, 65 Tsuruma-cho, Showa-ku, Nagoya 466-8550, Japan
Papers in Europe PMC - 04Kondo M14 papers · 2026
Department of Ophthalmology, Nagoya University School of Medicine, Japan. kondomi@med.nagoya-u.ac.jp
Papers in Europe PMC - 05Woo SJ13 papers · 2024
Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam 13620, Korea.
Papers in Europe PMC - 06Fujinami K12 papers · 2026
Laboratory of Visual Physiology, National Institute of Sensory Organs, 2-5-1, Higashigaoka, Meguro-ku, Tokyo 152-8902, Japan.
Papers in Europe PMC - 07Park KH10 papers · 2024
Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam 13620, Korea.
Papers in Europe PMC - 08Joo K9 papers · 2024
Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea.
Papers in Europe PMC - 09Ahn SJ8 papers · 2025
Department of Ophthalmology, Seoul National University College of Medicine, Seongnam, Korea.
Papers in Europe PMC - 10Hanazono G7 papers · 2022
Department of Ophthalmology, National Institute of Sensory Organs, Tokyo, Japan.
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.
"Occult macular dystrophy" OR "Miyake disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Occult macular dystrophy" OR "Miyake disease" OR "RP1L1"
Recall-expansion terms: RP1L1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: OCMD; OMD
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T10:38:24.295Z