DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for patterned macular dystrophy 3 — 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 modulePatterned macular dystrophy 3 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 patterned macular dystrophy 3 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
MAPK activated protein kinase 3 (MAPKAPK3) — MAPKAPK3 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 2-quinolin-3-ylpyridin-4-yldrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 3FHR · 1.9 Å · ligand 2-(2-QUINOLIN-3-YLPYRIDIN-4-YL)-1,5,6,7-TETRAHYDRO-4H-PYRROLO[3,2-C]PYRIDIN-4-ONE (P4O). Experimental structure, not a prediction.
What the evidence adds up to
A 57-year-old woman with a previously unreported combination of compound heterozygous MFSD8 mutations (c.154G>A, p.Gly52Arg and c.1006G>C, p.Glu336Gln) presented with subacute unilateral blurriness. Best corrected visual acuity was 20/250 in the right eye and 20/50 in the left. Multimodal imaging showed blunted foveal reflexes and subfoveal ellipsoid zone loss in both eyes. Full-field electroretinography was normal, but the Arden ratio on electro-oculography was abnormal in both eyes. Visual acuity remained stable over one year of follow-up. This is the first description of this mutation combination causing non-syndromic adult-onset macular dystrophy.
A 42-year-old man with Bietti crystalline dystrophy and a unilateral full-thickness macular hole underwent pars plana deep vitrectomy with internal limiting membrane peeling and gas injection. Visual acuity improved from counting fingers to 20/50 after surgery. The authors concluded that macular hole can occur in Bietti crystalline dystrophy and that post-surgical outcome can be good.
A retrospective clinical audit protocol from a private retinal practice in Australia aims to investigate potential misdiagnosis of inherited macular dystrophy as age-related macular degeneration (AMD) in real-world practice. The study will review records of patients diagnosed with AMD between 1995 and 2023, using a stepwise screening method and expert consensus review. Outcomes include determining the misdiagnosis rate, identifying which imaging modalities best differentiate macular dystrophy from atrophic AMD, and establishing guidance for cost-efficient genetic testing. The authors note that genetic testing is not feasible for most patients in real-world practice.
A case report of Sorsby’s fundus dystrophy describes central visual loss in the fifth decade of life, with nyctalopia as the first symptom and white-yellow deposits in the posterior pole as the first sign. The authors state that the condition remains difficult to treat and the outcome is often devastating. They note that the benefits of laser photocoagulation and dietary supplementation are unclear, and recommend managing patients similarly to those with end-stage age-related macular degeneration. A review of adult-onset foveomacular vitelliform dystrophy states that multimodal imaging has improved understanding of pathophysiological features, and that gene therapy is a promising future option for monogenic forms. What is still missing for these conditions are large-scale prospective trials, validated biomarkers to distinguish dystrophies from AMD without genetic testing, and cost-effective genetic screening protocols that can be implemented in routine clinical practice.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
AbstractBackground MFSD8 mutations can cause type 7 neuronal ceroid lipofuscinosis, a systemic disorder that includes vision loss; however, such mutations can also cause isolated retinal dystrophy with vision loss without systemic signs or symptoms as first identified in 2015. This report details a previously unreported combination of compound heterozygous variants in the MFSD8 gene causing a non-syndromic, bilateral central macular dystrophy presenting in adulthood.Materials and Methods We present a case of MFSD8-associated retinal dystrophy with multimodal imaging and a review of relevant literature.Results A 57-year-old female presented for subacute, unilateral blurriness in her right eye. Best corrected visual acuity was 20/250 and 20/50 in the right and left eyes, respectively. Fundus examination and multimodal imaging revealed blunted foveal reflexes and optical gap with subfoveal ellipsoid zone loss in both eyes, right greater than left. Full field electroretinography results were within normal limits while the Arden ratio on electro-oculography was abnormal in both eyes, right more so than left. Genetic testing revealed apparently causative compound heterozygous mutations in the MFSD8 gene: c.154G>A, p.(Gly52Arg) and c.1006G>C, p.(Gluc336Gln). Visual acuity over one year of follow-up has remained stable.Conclusions To authors’ knowledge, this report is first description of this combination of mutations in the MFSD8 gene leading to non-syndromic adult-onset macular dystrophy.
Journal of Ophthalmic and Vision Research · 2017 · 9 citations · open access
Outcome of macular hole surgery in Bietti crystalline dystrophy
AbstractPURPOSE: To describe a 42-year-old man, a known case of Bietti crystalline dystrophy who underwent surgery for unilateral full thickness macular hole. CASE REPORT: Clinical features, color fundus photographs, and optical coherence tomography, electroretinography, and electrooculography findings of the patient are reported. His visual acuity improved from counting fingers to 20/50 after pars plana deep vitrectomy with internal limiting membrane (ILM) peeling and gas injection. CONCLUSION: Macular hole can occur in Bietti crystalline dystrophy and the post-surgical outcome is good.
Annals of Medicine · 2023 · 2 citations · open access
Characterising the diagnosis of genetic maculopathies in a real-world private tertiary retinal practice in Australia: protocol for a retrospective clinical audit
AbstractPURPOSE: Accurate diagnosis of macular atrophy is paramount to enable appropriate treatment when novel treatments for geographic atrophy and macular dystrophies become available. Genetic testing is useful in distinguishing between the two conditions but is not feasible for the majority of patients in real-world clinical practice. Therefore, we aimed to investigate the potential misdiagnosis of inherited macular dystrophy as age-related macular degeneration (AMD) in real-world ophthalmic practice to assist in the development of guidelines to improve diagnostic accuracy while minimizing genetic testing for targeted patients. METHODS: Retrospective review of the medical records of patients diagnosed with AMD, which included imaging, between 1995 and 2023 from a large multidisciplinary private ophthalmic practice in Australia. We will use a stepwise method to screen for probable cases of macular dystrophy, followed by a consensus review by an expert panel. The outcomes are (1) to determine the potential misdiagnosis rate of macular dystrophy as atrophic AMD by retinal specialists and general ophthalmologists; (2) to identify clinical imaging modalities that are most useful for differentiating macular dystrophy from atrophic AMD; and (3) to establish preliminary guidance for clinicians to improve the diagnosis of macular atrophy from AMD in practice, and thereby target cost-efficient genetic testing. DISCUSSION: Improving the diagnostic accuracy of both AMD and macular dystrophy, while ensuring cost-efficient genetic testing, will improve the targeted treatment of macular diseases when emerging treatments become available.
AbstractBACKGROUND: Sorsby's fundus dystrophy describes the condition in which an autosomal-dominant inherited macular dystrophy with bilateral central visual loss is accompanied by progressive atrophy of the peripheral choroid and, subsequently, the outer retina. The first symptom of this condition is nyctalopia, whereas (typically) the first sign is the appearance of white-yellow deposits in the posterior pole. CASE REPORT: We report a case of Sorsby's fundus dystrophy, manifested with central visual loss in the fifth decade of life. A battery of tests--including ophthalmoscopy, electroretinography, color vision, Pelli-Robson contrast sensitivity, and fluorescein angiography--were used to evaluate the condition. CONCLUSIONS: While advances in understanding the etiology of Sorsby's fundus dystrophy have been made, the condition remains difficult to treat and the outcome is often devastating. The benefits of various methods of treatment, such as laser photocoagulation and dietary supplementation are unclear Patients affected by this condition should be managed in a manner similar to that for end-stage sufferers of age-related macular degeneration.
Expert Review of Ophthalmology · 2018 · 1 citations
Diagnosis, management and future treatment options for adult-onset foveomacular vitelliform dystrophy
AbstractIntroduction: Adult-onset foveomacular vitelliform dystrophy is a prevalent form of macular degeneration and typically occurs between the fourth and sixth decades of life.Areas covered: A pubmed and medline search was performed using the relevant key words. Several variants of the term ‘adult-onset vitelliform macular dystrophy’ were searched in relation to different terms: ‘diagnosis’, ‘managment’ and ‘treatment’.Expert commentary: Multimodal diagnostic imaging methods such as autofluorescence, fluorescein angiography, indocyanine green angiography, structural spectral domain optical coherence tomography, and optical coherence tomography angiography have led to a better understanding of the pathophysiological features of macular diseases. Gene therapy is a promising future option for treating monogenic forms of adult-onset foveomacular vitelliform dystrophy.
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.
