DeCure for Autosomal dominant vitreoretinochoroidopathy
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for autosomal dominant vitreoretinochoroidopathy — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleAutosomal dominant vitreoretinochoroidopathy maps to a 2-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 autosomal dominant vitreoretinochoroidopathy 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.
Molecular view
bestrophin 1 (BEST1) — BEST1 is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.
Loading structure…
helix sheet mc3drag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 8D1I · 1.82 Å · ligand 1,2-DIMYRISTOYL-RAC-GLYCERO-3-PHOSPHOCHOLINE (MC3). Experimental structure, not a prediction.
What the evidence adds up to
Thirteen members of a family presumed to carry the gene for autosomal dominant vitreoretinochoroidopathy were examined in 1992. Four affected members showed a marked reduction of the Arden ratio on electro-oculography, with values ranging from 1.1 to 1.5 against a normal threshold of 1.8 or higher. Electroretinography at that time showed only mildly affected rod function and normal cone function. The authors suggested that a diffuse disturbance of the photoreceptor-pigment epithelium complex may precede widespread loss of photoreceptor function in affected members.
A 2014 report describes a single elderly patient with autosomal dominant vitreoretinochoroidopathy, a rare inherited disease associated with distinct mutations in the BEST1 gene, who developed progressive central macular atrophy and cone dysfunction leading to visual loss 33 years after initial presentation. The authors note that typically patients have only mild visual impairment, and that moderate or severe impairment is rare, often resulting from vitreous haemorrhage. This case represents a late-stage exception to that general course.
A 1991 report on ten patients across four generations with autosomal dominant vitreoretinal dystrophy describes ophthalmological findings including retinal detachment, retinal holes, retinoschisis, lattice and snowflake degeneration, vitreoretinal adhesions, chorioretinal atrophy, and peripheral pigment epithelial changes. Two sisters in this cohort also showed growth retardation with skeletal anomalies most likely brachyolmia. No drug treatment is mentioned in any of these abstracts.
What is still missing is any clinical trial testing a pharmacological intervention for this disease, any funding for such a trial, and any attempt to stratify patients by BEST1 mutation type or by early electro-oculographic changes to identify those who might progress to late-stage macular atrophy.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Archives of Ophthalmology · 1992 · 32 citations
Electro-oculography in Autosomal Dominant Vitreoretinochoroidopathy
AbstractThirteen members of a family presumed to be harboring the gene for autosomal dominant vitreoretinochoroidopathy were examined. In four affected members, electro-oculography demonstrated marked reduction of the Arden ratio (range, 1.1 to 1.5; normal, > or = 1.8), despite electroretinographic evidence of mildly affected rod function and normal cone function. These findings suggested that a diffuse disturbance of the photoreceptor-pigment epithelium complex may have been present prior to wide-spread loss of photoreceptor function in the affected members of this family. As in previously described families, the pattern of inheritance appeared consistent with autosomal dominance.
Progressive Cone Dysfunction and Geographic Atrophy of the Macula in Late Stage Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)
AbstractAutosomal dominant vitreoretinochoroidopathy (ADVIRC) is a rare inherited ocular disease associated with distinct mutations in the BEST1 gene. Typically, patients have only mild visual impairment, and rarely do patients have moderate or severe visual impairment, often as a result of vitreous hemorrhage. We now describe progressive central macular atrophy and cone dysfunction leading to visual loss in an elderly ADVIRC patient 33 years after initial presentation.
Klinische Monatsblätter für Augenheilkunde · 1991 · 4 citations
Autosomal dominante vitreoretinale Dystrophie mit Skelettdysplasie in einer Generation
AbstractWe report on ten patients of four generations with autosomal dominant vitreoretinal dystrophy with different manifestation. The ophthalmological findings are retinal detachment, retinal holes, retinoschisis, lattice and snowflake degeneration, vitreoretinal adhesions, chorioretinal atrophy and peripheral pigment epithelial changes. Two sisters show growth retardation with skeletal anomalies most likely brachyolmia.
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.
