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ORPHA:67042

Late-onset retinal degeneration

medium confidenceDisorder

Also known as: Autosomal dominant late-onset retinal degeneration · LORD

Publications

678

82.1th percentile

Trials

0

Interventional, condition-specific

Researchers

1,221

Distinct authors in sample

Gene link

C1QTNF5

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Late-onset retinal degeneration is an inherited retinal characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.

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 (2)

autosomal dominant late-onset retinal degeneration · late-onset retinal degeneration

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.”

5/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — C1QTNF5

  2. LiteraturePresent

    678 matched papers (448 in last 10 years) Source

  3. Phenotype characterisedPresent

    30 HPO annotations (e.g. Choroidal neovascularization; Atrophic fundus lesion; Abnormal anterior eye segment morphology) Source

  4. Animal modelPresent

    1 genotype model (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 trialPartial

    None under the specific name; 57 for broader category retinal degeneration

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 (C1QTNF5).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

30

Associated phenotypes · MONDO:0011579

  • Choroidal neovascularization
  • Atrophic fundus lesion
  • Abnormal anterior eye segment morphology
  • Epiretinal membrane
  • Macular degeneration

Showing 5 of 30 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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?

678

678 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=3967) is 59.

678 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).

448 in the last 10 years · medium confidence · 82.1th percentile (publications denominator)

Phrase hits: 307 · MeSH hits: 9

Open Europe PMC search

Who's working on it?

1,221

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
    Ayyagari R12 papers · 2025

    Shiley Eye Center, University of California-San Diego, La Jolla, California, United States.

    Papers in Europe PMC
  2. 02
    Borooah S10 papers · 2023

    Medical Research Council Centre for Regenerative Medicine, University of Edinburgh, Edinburgh, United Kingdom.

    Papers in Europe PMC
  3. 03
    Dhillon B10 papers · 2023

    Princess Alexandra Eye Pavilion, Edinburgh, United Kingdom.

    Papers in Europe PMC
  4. 04
    Browning AC8 papers · 2023

    Newcastle Eye Centre; Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, United Kingdom.. Electronic address: andrew.browning@nuth.nhs.uk.

    Papers in Europe PMC
  5. 05
    Cideciyan AV8 papers · 2023

    Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

    Papers in Europe PMC
  6. 06
    Wright AF8 papers · 2023

    Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.

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

    Ocular and Stem Cell Translational Research Section, National Eye Institute, NIH, Bethesda, MD USA.

    Papers in Europe PMC
  8. 08
    Jacobson SG7 papers · 2017

    Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

    Papers in Europe PMC
  9. 09
    Sharma R6 papers · 2026

    Ocular and Stem Cell Translational Research Section, National Eye Institute, NIH, Bethesda, MD USA.

    Papers in Europe PMC
  10. 10
    Cukras C5 papers · 2025

    National Eye Institute, NIH, Bethesda, Maryland, 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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 57 trials are registered for retinal degeneration, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

medium 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.

57 interventional trials matched retinal degeneration, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: retinal degeneration

57

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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

Open the complete matched search on ClinicalTrials.gov

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-30

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).

Uncertain / not reviewed (1)

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 Late-onset retinal degeneration — 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.

("Late-onset retinal degeneration" OR "Autosomal dominant late-onset retinal degeneration") OR (MESH:"Late-Onset Retinal Degeneration") OR ("C1QTNF5" OR "C1QTNF5 syndrome" OR "C1QTNF5-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Late-Onset Retinal Degeneration

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

"Late-onset retinal degeneration" OR "Autosomal dominant late-onset retinal degeneration"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"retinal degeneration"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: LORD

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 2026-07-27T01:25:27.696Z