RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:67042

Late-onset retinal degeneration

medium confidenceDisorder

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

Publications

307

78.4th percentile

Trials

0

Interventional, condition-specific

Researchers

1,221

Distinct authors in sample

Gene link

C1QTNF5

Definitive

Readiness

3/6

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.”

3/6 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

    307 matched papers (196 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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)

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?

307

307 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.

307 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).

196 in the last 10 years · medium confidence · 78.4th 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 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.

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

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 2026-07-26

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"

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" OR "C1QTNF5"

Recall-expansion terms: C1QTNF5

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, recall-expansion; 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