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ORPHA:85128

Bothnia retinal dystrophy

low confidenceDisorder

Also known as: Västerbotten dystrophy

Publications

1,146

Trials

0

Interventional, condition-specific

Researchers

158

Distinct authors in sample

Gene link

RLBP1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Bothnia retinal is a rare form of retinal , seen mostly in Northern Sweden, presenting in early childhood with night blindness and maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted.

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)

VC$sterbotten dystrophy · Vasterbotten 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 — RLBP1

  2. LiteraturePresent

    1,146 matched papers (848 in last 10 years) Source

  3. Phenotype characterisedPresent

    27 HPO annotations (e.g. Macular degeneration; Retinal dystrophy; Nyctalopia) Source

  4. Animal modelPresent

    2 genotype models (Danio rerio, 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 (RLBP1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

27

Associated phenotypes · MONDO:0011838

  • Macular degeneration
  • Retinal dystrophy
  • Nyctalopia
  • Abnormal electroretinogram
  • Visual field defect

Showing 5 of 27 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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?

1,146

1,146 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.

1,146 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).

848 in the last 10 years · low confidence

Phrase hits: 28 · MeSH hits: 3

Open Europe PMC search

Who's working on it?

158

Distinct author names in 28 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
    Albers J2 papers · 2022

    X-ray Based Preclinical Imaging Technologies, Institute for Diagnostic and Interventional Radiology, University Medical Center, 37075 Göttingen, Germany.

    Papers in Europe PMC
  2. 02
    Kiser PD2 papers · 2018

    Department of Pharmacology, School of Medicine, Case Western Reserve University, 2109 Adelbert Road, Cleveland, Ohio 44106-4965, United States.

    Papers in Europe PMC
  3. 03
    López-Pisón J2 papers · 2000
    Papers in Europe PMC
  4. 04
    Palczewski K2 papers · 2018

    Department of Pharmacology, School of Medicine, Case Western Reserve University, Cleveland, OH, U.S.A. kxp65@case.edu pdk7@case.edu.

    Papers in Europe PMC
  5. 05
    Abou-Al-Shaar H1 paper · 2018

    Department of Neurosurgery, Hofstra Northwell School of Medicine, Manhasset, New York, USA.

    Papers in Europe PMC
  6. 06
    Al-Hindi HN1 paper · 2018

    Department of Pathology & Laboratory Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.

    Papers in Europe PMC
  7. 07
    Alfawaz S1 paper · 2018

    Division of Neurology, Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

    Papers in Europe PMC
  8. 08
    Allen DG1 paper · 2016

    Sydney Medical School & Bosch Institute, University of Sydney, New South Wales, Australia; and Department of Physiology & Biophysics, University of Washington, Seattle, Washington.

    Papers in Europe PMC
  9. 09
    Alves F1 paper · 2022

    Translational Molecular Imaging, Max-Planck Institute for Multidisciplinary Sciences, City Campus, 37075 Göttingen, Germany.

    Papers in Europe PMC
  10. 10
    Bender C1 paper · 2020

    National Eye Institute, National Institutes of Health, 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 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 2026-07-30

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).

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 Bothnia retinal 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.

("Bothnia retinal dystrophy" OR "Västerbotten dystrophy" OR "VC$sterbotten dystrophy" OR "Vasterbotten dystrophy") OR (MESH:"Bothnia Retinal Dystrophy") OR ("RLBP1" OR "RLBP1 syndrome" OR "RLBP1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Bothnia Retinal Dystrophy

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

"Bothnia retinal dystrophy" OR "Västerbotten dystrophy" OR "VC$sterbotten dystrophy" OR "Vasterbotten dystrophy"

Study-type breakdown: 0 interventional · 0 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 (1146) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T02:44:51.468Z