DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Oguchi disease-1 — 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 moduleOguchi disease-1 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 oguchi disease-1 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
Two unrelated Japanese patients with Oguchi disease, a 35-year-old woman and a 72-year-old man, both showed a golden-yellow fundus discoloration that disappeared after 30 minutes of dark adaptation. A deletion of an adenine in codon 309 of exon 11 of the arrestin gene was found in both patients. The authors state that mutations in arrestin are common in Japanese patients with Oguchi disease. No treatment or intervention was tested.
Four Black patients from one family with Oguchi disease were described in 1969, the first reported occurrence in Black individuals. Mizuo’s phenomenon was demonstrated, and a possible defect in pigment epithelium was noted. No genetic analysis or treatment was reported.
Two siblings of consanguineous Egyptian parents with poor night vision were diagnosed with type 2 Oguchi disease. Exome sequencing revealed a homozygous stop-gain variant in the GRK1 gene, c.1338c>A: p.Cys446Ter, previously unreported in Oguchi type II. The clinical and electrophysiological findings were consistent with the Oguchi phenotype. This is the first molecularly confirmed Oguchi type II patients from Egypt.
No drug, no therapy, and no clinical trial is described in any of these abstracts. What remains missing is any attempt to treat or reverse the condition, any large cohort to establish genotype-phenotype correlations, and any funding or trial design aimed at intervention.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Retina · 1997 · 46 citations
OGUCHI DISEASE
AbstractOBJECTIVE: To characterize clinical features of patients with Oguchi disease associated with a homozygous deletion of adenine at nucleotide 1147 (1147delA) in codon 309 in the arrestin gene. METHODS: Mutation screening by single-strand conformation polymorphism analysis was done, followed by sequencing. Ophthalmologic testing included evaluation of visual acuity and color vision, fundus examination, electroretinography, fluorescein angiography, evaluation of kinetic visual field, and dark adaptometry. Nine patients with Oguchi disease from seven unrelated families and family members who were unaffected by the disease were examined. RESULTS: A homozygous 1147delA mutation in the arrestin gene was identified in eight patients from six families with Oguchi disease. All patients who were examined exhibited a golden-yellow retinal reflex associated with Mizuo-Nakamura phenomenon and impairment of rod function in dark adaptation tests, although fundus examination showed slight variation in these findings. Four patients with the mutation had slightly reduced visual acuity, and the electroretinograms of three patients showed slightly reduced amplitudes during 30-Hz flicker electroretinography. CONCLUSION: Patients with Oguchi disease associated with the arrestin 1147delA mutation typically demonstrate retarded rod adaptation, whereas some patients have slightly impaired cone function.
1147 del A mutation in the arrestin gene in Japanese patients with Oguchi disease
AbstractWe examined the sequence of the arrestin gene in two unrelated patients with Oguchi disease. A 35-year-old woman and a 72-year-old man underwent a complete ophthalmological examination, including evaluation of visual acuity and color vision, fundus examination, and electroretinography. A golden-yellow discoloration was observed in their fundi. After 30 minutes of dark adaptation, the discoloration in the fundus disappeared. A deletion of an adenine in codon 309 of exon 11 of the arrestin gene was identified in both patients. Mutations in the arrestin are common in Japanese patients with Oguchi disease.
AbstractFour Negro patients who have Oguchi's disease are presented. All patients are members of the same family. The family history and the clinical and fluorescein angiographic findings are described. Mizuo's phenomenon is demonstrated and a possible defect in pigment epithelium is described. To the best of our knowledge, this is the first reported occurrence of Oguchi's Disease in Negroes.
A novel variant in the G-protein receptor kinase (GRK1) causes Oguchi syndrome, type II, in an Egyptian family
AbstractPURPOSE: This study aimed to report the clinical, electrophysiological, and genetic findings in two siblings of an Egyptian family with type 2 Oguchi disease, with multimodal imaging performed for proper evaluation. METHODS: Two siblings of consanguineous parents presented with poor night vision underwent full ophthalmological examination, ultra-widefield fundus photography, fundus autofluorescence (FAF) and spectral-domain optical coherence tomography (SD-OCT) of the macula, repeated fundus photography following dark adaptation for 3 hours and electroretinogram (ERG). Exome sequencing (ES) was performed for one patient and Sanger sequencing was then used for segregation analysis. RESULTS: The clinical findings and investigations were suggestive of the Oguchi disease phenotype. The ES revealed a homozygous stop gain variant, first time to be detected in Ouchi II patient, in exon 6 of the G-protein receptor kinase 1 (GRK1) gene, c.1338c>A: p.Cys446Ter. CONCLUSIONS: These are the first molecularly confirmed patients from Egypt with Oguchi disease type 2. In addition, we identified a pathogenic GRK1 variant first time to be detected in Oguchi II patients expanding both the phenotypic and mutational spectrum of Oguchi disease.
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.
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