Rare & Orphan Lab · DeCure for X

DeCure for Congenital stationary night blindness 2A

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for congenital stationary night blindness 2A — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.

Disease module1 genesLead labRare & Orphan
All cures
Rare & OrphanDOID:0110871$DeCureRare

The disease map

Disease moduleCongenital stationary night blindness 2A maps to a 1-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.

Research record

01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash

Current lead

No approved-drug candidate for congenital stationary night blindness 2a is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.

What the evidence adds up to

Seven of eight patients in a 1988 case series presented with decreased acuity and nystagmus rather than complaints of night blindness. The diagnosis of congenital stationary night blindness was made only after electroretinogram and dark adaptation testing. Two of those patients showed pupillary constriction to darkness, a sign of retinal disease in young patients. The authors concluded that careful electrodiagnostic testing is needed for accurate genetic counselling.

Two later review articles, from 2011 and 2016, restate the same clinical approach: patients who report seeing badly in the dark require a full ophthalmological workup that distinguishes acquired from congenital night blindness. Visual acuity, biomicroscopy, fundus examination, visual field testing, and flash ERG are listed as essential steps. Both reviews note that not all patients who complain of poor night vision are actually night blind.

No treatment, drug, or intervention for congenital stationary night blindness 2A is mentioned in any of these abstracts. No molecular or genetic data are reported. The 1988 series does not specify which genetic subtype the patients had.

What is still missing: any clinical trial testing a therapy, any molecular characterisation of the CSNB2A population, any patient stratification by genotype, and any funding for a treatment study.

Evidence

Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.

Journal of Pediatric Ophthalmology & Strabismus · 1988 · 18 citations

X-Linked Congenital Stationary Night Blindness With Myopia and Nystagmus Without Clinical Complaints of Nyctalopia

AbstractSeven of eight patients presented initially or were followed for decreased acuity and nystagmus without complaints of night blindness. The diagnosis of congenital stationary night blindness was established with electroretinogram and dark adaptation testing. Careful electrodiagnostic testing is needed to provide accurate genetic counseling. Two patients showed pupillary constriction to darkness which is a sign of retinal disease in young patients.

https://doi.org/10.3928/0191-3913-19880101-09
Acta Ophthalmologica · 2016 · 0 citations

The initial consultation

AbstractSummary Purpose Patients with complaints of seeing badly in the dark need a full ophthalmological workup. Methods Acquired versus congenital nightblindness has to be questioned in a full anamnesis. Visual acuity, biomicroscopy and fundus examination are essential followed by visual field testing and possibly visual electrophysiology (flash ERG). Results Several causes of congenital and acquired nightblindness can be found. Not all patients complaining of seeing badly in the dark are ‘nightblind’. Conclusion A full clinical ophthalmological work up can identify adequately several causes of night blindness.

https://doi.org/10.1111/j.1755-3768.2016.0057
Acta Ophthalmologica · 2011 · 0 citations

The first consultation

AbstractAbstract Purpose Patients with complaints of seeing badly in the dark need a full ophthalmological workup. Methods Acquired versus congenital nightblindness has to be questioned in a full anamnesis. Visual acuity, biomicroscopy and fundus examination are essential followed by visual field testing and possibly visual electrophysiology (flash ERG) Results Several causes of congenital and acquired nightblindness can be found. Not all patients complaining of seeing badly in the dark are "nightblind" Conclusion A full clinical ophthalmological work up can identify adequately several causes of night blindness

https://doi.org/10.1111/j.1755-3768.2011.4221.x

Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.

DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.