DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Sorsby fundus dystrophy — screening already-approved drugs against its 3-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleSorsby fundus dystrophy maps to a 3-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 sorsby fundus dystrophy 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
synapsin III (SYN3) — SYN3 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 anpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 2P0A · 1.9 Å · ligand PHOSPHOAMINOPHOSPHONIC ACID-ADENYLATE ESTER (ANP). Experimental structure, not a prediction.
What the evidence adds up to
No abstract in this set reports a treatment trial or drug intervention for Sorsby fundus dystrophy. The 1996 description states that SFD is an autosomal dominant disorder causing bilateral central vision loss from choroidal neovascularisation or pigment epithelial atrophy, with onset in the fourth or fifth decade, and that drusen-like changes, impaired dark adaptation, and abnormal electroretinographic results may occur. The 2000 study of a large family with autosomal dominant fundus dystrophy found pisciform flecks and drusen-like deposits from the fifth decade, and chorioretinal atrophy with neovascularisation and disciform lesions from the sixth decade. Linkage analysis gave a maximum lod score of 3.94 at marker D22S283, but no causative mutations were found in the TIMP-3 gene after screening all five exons, the promoter region, and the 3'UTR. The authors concluded the family most probably had SFD but that no TIMP-3 mutation could be identified.
The 2004 abstract concerns fundus albipunctatus, a different disease caused by RDH5 mutations, not SFD. It describes monozygotic twin sisters with that condition and notes that cone dystrophy can occur in young women as well as elderly men, and that clinical severity differed between the twins, indicating non-genetic factors influence the phenotype. This abstract provides no information relevant to SFD treatment.
The 2023 abstract describes peripheral reticular pigmentary degeneration in myotonic dystrophy, an unrelated systemic disorder. It contains no data on SFD.
No drug, no supplement, no gene therapy, no dietary intervention, and no clinical trial of any kind is reported in these abstracts for Sorsby fundus dystrophy. What is missing is any funded effort to test a treatment in patients with genetically confirmed SFD, any trial design that accounts for the variable age of onset and the two distinct pathological pathways (neovascularisation versus atrophy), and any stratification by TIMP-3 mutation status or by the presence of modifying genetic or environmental factors hinted at by the discordant twin data in the unrelated disease abstract.
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 · 1996 · 31 citations
Sorsby Fundus Dystrophy
AbstractSorbsy fundus dystrophy (SFD) is an autosomal dominant disorder that is characterized by bilateral loss of central vision secondary to choroidal neovascularization and/or pigment epithelial atrophy in the macula, with onset of visual symptoms usually in the fourth or fifth decade. Drusenlike changes may occur, with impaired dark adaptation and abnormal electroretinographic results.
Young Monozygotic Twin Sisters With Fundus Albipunctatus and Cone Dystrophy
AbstractOBJECTIVE: To describe young monozygotic twin sisters with fundus albipunctatus (a type of autosomal recessive stationary night blindness caused by mutations of the 11-cis retinol dehydrogenase gene [RDH5]) associated with cone dystrophy, previously reported in elderly men. METHODS: Ophthalmologic examinations were performed, and the RDH5 gene was analyzed by direct genomic sequencing. RESULTS: Twin 23-year-old sisters with high myopic refractive errors of approximately -13 diopters were diagnosed as having fundus albipunctatus. Their photopic electroretinographic responses were markedly reduced, and cone dystrophy was diagnosed. One twin had macular degeneration with reduced best-corrected visual acuity, while the other twin had normal maculae with good visual acuity. A compound heterozygous mutation, Val132Met and Arg280His, in the RDH5 gene was found in both sisters. CONCLUSIONS: Cone dystrophy can be present in patients with fundus albipunctatus, not only elderly men but also young women. The clinical severity differed between monozygotic twins with fundus albipunctatus and cone dystrophy.Clinical Relevance The patient's sex is not critical for the presence of cone dystrophy in patients with fundus albipunctatus. The discordant findings in the twins indicate that factors other than genetics influenced the phenotype.
British Journal of Ophthalmology · 2000 · 11 citations · open access
Sorsby fundus dystrophy without a mutation in the TIMP-3 gene
AbstractAIMS: To examine a large family with an autosomal dominant fundus dystrophy and to investigate whether or not mutations in TIMP-3 gene were involved. METHODS: A large family of 58 individuals with an autosomal dominant fundus dystrophy was examined ophthalmologically. A DNA linkage analysis in the 22q12.1-q13.2 region was performed. The TIMP-3 gene was screened for mutations in all five exons. RESULTS: In this large family 15 individuals were affected. All other individuals were found to be clinically unaffected. Pisciform flecks in the midperiphery and drusen-like deposits were the most typical ophthalmological finding in this family and were encountered from the fifth decade on. Chorioretinal atrophy and neovascularisation with disciform lesions characterised the disease from the sixth decade on. Linkage analysis using an affected only analysis, showed a maximum positive lod score of 3.94 at theta = 0.0 with marker D22S283. No mutations possibly causing Sorsby fundus dystrophy were found in either the exonic sequences, the promotor region, or the 3'UTR. CONCLUSION: The family in this pedigree has an autosomal dominant fundus dystrophy, which is most probably Sorsby fundus dystrophy. Although, in the linkage analysis, significant positive lod scores were found with the region 22q12.1-q13.2, no causative mutations could be identified in the TIMP-3 gene.
BMJ Case Reports · 2023 · 0 citations · open access
Ultra-widefield imaging and peripheral optical coherence tomography of peripheral reticular pigmentary degeneration (PRPD) in myotonic dystrophy
AbstractA young man with diagnosed classic myotonic dystrophy was referred for fundus evaluation. He had hatchet facies with wasting of the temporalis and masseter muscles, dental abnormalities ([figure 1A,B][1]), myotonia and distal muscle weakness. Ocular examination depicted bilateral and symmetrical
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.
