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ORPHA:59181

Sorsby fundus dystrophy

low confidenceDisorder

Also known as: SMD · Sorsby macular dystrophy · Sorsby pseudoinflammatory fundus dystrophy

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

12,679

Trials

0

Interventional, condition-specific

Researchers

1,078

Distinct authors in sample

Gene link

TIMP3

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Sorsby's fundus is a rare macular , presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (1)

SFD

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

    Definitive — TIMP3

  2. LiteraturePresent

    12,679 matched papers (7,551 in last 10 years) Source

  3. Phenotype characterisedPresent

    28 HPO annotations (e.g. Yellow/white macular lesion; Abnormal fundus autofluorescence imaging; Hyporeflective spaces on macular OCT) Source

  4. Animal modelPresent

    4 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?

Yes — we know a specific gene responsible (TIMP3).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

28

Associated phenotypes · MONDO:0007640

  • Yellow/white macular lesion
  • Abnormal fundus autofluorescence imaging
  • Hyporeflective spaces on macular OCT
  • Pigmentary retinopathy
  • Retinal atrophy

Showing 5 of 28 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

12,679

12,679 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

12,679 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).

7,551 in the last 10 years · low confidence

Phrase hits: 340 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,078

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
    Anand-Apte B11 papers · 2022

    Cole Eye Institute & Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA.

    Papers in Europe PMC
  2. 02
    Holz FG10 papers · 2024

    Department of Ophthalmology, University of Bonn, Bonn, Germany. Electronic address: frank.holz@ukbonn.de.

    Papers in Europe PMC
  3. 03
    Lotery AJ10 papers · 2025

    Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, MP806, Tremona Road, Southampton SO16 6YD, UK.

    Papers in Europe PMC
  4. 04
    Pfau M10 papers · 2026

    Department of Ophthalmology, University of Bonn, Bonn, Germany; Department of Biomedical Data Science, Stanford University, USA.

    Papers in Europe PMC
  5. 05
    Charbel Issa P8 papers · 2025

    Department of Ophthalmology, University of Bonn, Bonn, Germany. study-enquiry@outlook.com.

    Papers in Europe PMC
  6. 06
    Stöhr H8 papers · 2025

    Institute of Human Genetics, University Regensburg, Franz-Josef-Strauss-Allee 11, 93053, Regensburg, Germany. heidi.stoehr@klinik.uni-regensburg.de

    Papers in Europe PMC
  7. 07
    Pfau K7 papers · 2026

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

    Papers in Europe PMC
  8. 08
    Ratnayaka JA7 papers · 2025

    Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, MP806, Tremona Road, Southampton SO16 6YD, UK.

    Papers in Europe PMC
  9. 09
    Weber BH7 papers · 2015

    Institute of Human Genetics, Biocenter, University of Wuerzburg, Germany. bweb@biozentrum.uni-wuerzburg.de

    Papers in Europe PMC
  10. 10
    Chao JR6 papers · 2024

    Department of Ophthalmology, University of Washington, Seattle, WA, 98109, 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 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.

low 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.

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 2026-07-29

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 Sorsby fundus 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.

("Sorsby fundus dystrophy" OR "Sorsby macular dystrophy" OR "Sorsby pseudoinflammatory fundus dystrophy") OR (MESH:"Fundus Dystrophy, Pseudoinflammatory, Of Sorsby") OR ("TIMP3" OR "TIMP3 syndrome" OR "TIMP3-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Fundus Dystrophy, Pseudoinflammatory, Of Sorsby

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

"Sorsby fundus dystrophy" OR "Sorsby macular dystrophy" OR "Sorsby pseudoinflammatory fundus dystrophy" OR "Fundus Dystrophy, Pseudoinflammatory, Of Sorsby"

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

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: SMD; SFD

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
  • Publication count (12679) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T01:00:51.602Z