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ORPHA:227796

Fundus albipunctatus

low confidenceDisorder

Publications

4,437

Trials

0

Interventional, condition-specific

Researchers

1,199

Distinct authors in sample

Gene link

PRPH2, RDH5, RHO

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Fundus albipunctatus is a rare, genetic retinal disorder characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non- night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.

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)

fundus albipunctatus · pigmentary retinal 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.”

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 — PRPH2, RDH5, RHO, RLBP1

  2. LiteraturePresent

    4,437 matched papers (2,679 in last 10 years) Source

  3. Phenotype characterisedPresent

    22 HPO annotations (e.g. Retinal flecks; Fundus albipunctatus; Nyctalopia) Source

  4. Animal modelPresent

    3 genotype models (Mus musculus, Danio rerio) 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 (PRPH2, RDH5, RHO…).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

22

Associated phenotypes · MONDO:0007639

  • Retinal flecks
  • Fundus albipunctatus
  • Nyctalopia
  • Progressive visual loss

Showing 4 of 22 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

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?

4,437

4,437 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.

4,437 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).

2,679 in the last 10 years · low confidence

Phrase hits: 615 · MeSH hits: 18

Open Europe PMC search

Who's working on it?

1,199

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
    Pras E6 papers · 2026

    Department of Ophthalmology, Assaf Harofeh Medical Center, Zerifin, Israel. eranpras@gmail.com

    Papers in Europe PMC
  2. 02
    Audo I5 papers · 2026

    Sorbonne Universités, INSERM, CNRS, Institut de la Vision, Paris, 75012, France.

    Papers in Europe PMC
  3. 03
    Fujinami K5 papers · 2026

    Laboratory of Visual Physiology, Division for Vision Research, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Centre, Tokyo, Japan.

    Papers in Europe PMC
  4. 04
    Mahroo OA5 papers · 2025

    Institute of Ophthalmology, University College London, Bath Street, London, UK. o.mahroo@ucl.ac.uk.

    Papers in Europe PMC
  5. 05
    Ben-Yosef T4 papers · 2026

    Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.

    Papers in Europe PMC
  6. 06
    Joo K4 papers · 2024

    Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam 13620, Korea.

    Papers in Europe PMC
  7. 07
    Kiser PD4 papers · 2026

    The Department of Physiology & Biophysics, University of California, Irvine, California, USA; Research Service, The VA Long Beach Health Care System, Long Beach, California, USA; The Gavin Herbert Eye Institute, Department of Ophthalmology, University of California, Irvine, California, USA. Electronic address: pkiser@uci.edu.

    Papers in Europe PMC
  8. 08
    Marques JP4 papers · 2025

    Ophthalmology Unit, Centro de Responsabilidade Integrado em Oftalmologia (CRIO), Centro Hospitalar e Universitário de Coimbra (CHUC), Praceta Prof. Mota Pinto, 3000-075, Coimbra, Portugal. marquesjoaopedro@gmail.com.

    Papers in Europe PMC
  9. 09
    Marta A4 papers · 2025

    Department of Ophthalmology, Centro Hospitalar Universitário de Santo António, EPE (CHUdSA), Porto, Portugal. analuisamarta2@gmail.com.

    Papers in Europe PMC
  10. 10
    Michaelides M4 papers · 2021

    UCL Institute of Ophthalmology, London, UK.

    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.

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.

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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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 (3)

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 Fundus albipunctatus — 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.

("Fundus albipunctatus" OR "pigmentary retinal dystrophy") OR (MESH:"Fundus Albipunctatus") OR ("PRPH2" OR "PRPH2 syndrome" OR "PRPH2-related" OR "RDH5" OR "RDH5 syndrome" OR "RDH5-related" OR "RHO syndrome" OR "RHO-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Fundus Albipunctatus

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

"Fundus albipunctatus" OR "pigmentary retinal dystrophy"

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

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (4437) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T09:59:30.758Z