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ORPHA:85128

Bothnia retinal dystrophy

high confidenceDisorder

Also known as: Västerbotten dystrophy

Publications

28

36.4th percentile

Trials

2

Interventional, condition-specific

Researchers

158

Distinct authors in sample

Gene link

RLBP1

Definitive

Readiness

3/6

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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — RLBP1

  2. LiteraturePresent

    28 matched papers (19 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

    2 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 (RLBP1).

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?

28

28 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.

28 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).

19 in the last 10 years · high confidence · 36.4th percentile (publications denominator)

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?

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

  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?

2

interventional trials for this specific condition

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

Data as of 27 July 2026

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

high confidence · 82.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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.

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

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" OR "RLBP1"

Recall-expansion terms: 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: 2 interventional · 0 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 2026-07-27T02:44:51.468Z