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ORPHA:227796

Fundus albipunctatus

high confidenceDisorder

Publications

615

84.2th percentile

Trials

3

Interventional, condition-specific

Researchers

1,199

Distinct authors in sample

Gene link

PRPH2, RDH5, RHO

Definitive

Readiness

3/6

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — PRPH2, RDH5, RHO, RLBP1

  2. LiteraturePresent

    615 matched papers (286 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 trialPresent

    3 matched on ClinicalTrials.gov (1 recruiting in sample)

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)

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?

615

615 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=5449) is 41.

615 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).

286 in the last 10 years · high confidence · 84.2th percentile (publications denominator)

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?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  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?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).

high confidence · 85.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

3 interventional trials matched after quoted-phrase search and title/condition post-filter.

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.

"Fundus albipunctatus" OR "pigmentary retinal dystrophy"

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" OR "PRPH2" OR "RDH5" OR "RHO" OR "RLBP1"

Recall-expansion terms: PRPH2, RDH5, RHO, RLBP1

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 3 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

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

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