ORPHA:674935
Torpedo Maculopathy
Also known as: Atypical macular coloboma · Congenital hypomelanotic freckle · Paramacular albinotic spot syndrome · Solitary hypopigmented nevus of the retinal pigment epithelium · TM
Publications
157
69.3th percentile
Trials
0
Interventional, condition-specific
Researchers
633
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
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:0971125
- UMLS:C5891237
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
157 matched papers (119 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
157
157 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.
157 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).
119 in the last 10 years · medium confidence · 69.3th percentile (publications denominator)
Phrase hits: 157 · MeSH hits: 0
Who's working on it?
633
Distinct author names in 157 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.
- 01Venkatesh R8 papers · 2024
Department of Retina-Vitreous, Narayana Nethralaya, Bengaluru, Karnataka, India.
Papers in Europe PMC - 02Shields CL7 papers · 2026
4Ocular Oncology Service, Wills Eye Hospital, Philadelphia, USA.
Papers in Europe PMC - 03Yadav NK6 papers · 2022
Department of Retina-Vitreous, Narayana Nethralaya, Bengaluru, Karnataka, India.
Papers in Europe PMC - 04Pereira A4 papers · 2024
Department of Retina-Vitreous, Narayana Nethralaya, Bengaluru, Karnataka, India.
Papers in Europe PMC - 05Shields JA4 papers · 2026
Ocular Oncology Service, Wills Eye Institute, Thomas Jefferson University , Philadelphia, PA,
Papers in Europe PMC - 06Small KW4 papers · 2026
Macula and Retina Institute, Glendale and Los Angeles, CA.
Papers in Europe PMC - 07Chhablani J3 papers · 2024
Medical Retina and Vitreoretinal Surgery, University of Pittsburgh School of Medicine, 203 Lothrop Street, Suite 800, Pittsburg, PA 15213, USA.
Papers in Europe PMC - 08Jain K3 papers · 2022
Department of Retina-Vitreous, Narayana Nethralaya, Bengaluru, Karnataka, India.
Papers in Europe PMC - 09Merle H3 papers · 2022
Service d'ophtalmologie, hôpital Pierre-Zobda-Quitman, centre hospitalier universitaire de Fort-de-France, BP 632, 97261 Fort-de-France cedex, Martinique. Electronic address: harold.merle@chu-fortdefrance.fr.
Papers in Europe PMC - 10Moore AT3 papers · 2020
1] Inherited Eye Diseases, UCL Institute of Ophthalmology, London, UK [2] Moorfields Eye Hospital, London, UK [3] Department of Ophthalmology, Great Ormond Street Hospital, London, UK [4] Department of Ophthalmology, University of California, San Francisco, CA, USA.
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.
"Torpedo Maculopathy" OR "Atypical macular coloboma" OR "Congenital hypomelanotic freckle" OR "Paramacular albinotic spot syndrome" OR "Solitary hypopigmented nevus of the retinal pigment epithelium" OR "Solitary hypopigmented nevus of retinal pigment epithelium"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Torpedo Maculopathy" OR "Atypical macular coloboma" OR "Congenital hypomelanotic freckle" OR "Paramacular albinotic spot syndrome" OR "Solitary hypopigmented nevus of the retinal pigment epithelium" OR "Solitary hypopigmented nevus of retinal pigment epithelium"
Study-type breakdown: 0 interventional · 0 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: TM
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 2026-07-27T20:21:04.678Z