DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for exudative vitreoretinopathy — screening already-approved drugs against its 10-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleExudative vitreoretinopathy maps to a 10-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 exudative vitreoretinopathy 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
catenin beta 1 (CTNNB1) — CTNNB1 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 prodrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 8Z10 · 2.35 Å · ligand PROLINE (PRO). Experimental structure, not a prediction.
What the evidence adds up to
Familial exudative vitreoretinopathy (FEVR) is a slowly progressive hereditary disorder of the retina and vitreous with an autosomal dominant inheritance pattern. The disease has three clinical stages, and findings include retinal detachment, fibrovascular masses with dragged disc and macula, neovascular fronds, and intraretinal deposits. Electroretinograms are normal. The clinical expression is variable; in one pedigree the sole finding in four family members was isolated intraretinal deposits, which may represent a mild form of the disease. Bilateral exudative vitreoretinopathy has also been reported as a rare ophthalmic manifestation of cutis marmorata telangiectatica congenita, a cutaneous vascular anomaly, and in that case bilateral tractional retinal detachments were reattached successfully after vitrectomy.
In a retrospective review of 40 FEVR patients followed for a mean of 5.4 to 6.9 years, the mean age at diagnosis was about 5.6 to 6.0 years. Patients who tested positive for a typical FEVR gene mutation reported 100% full-term births, whereas genetic-negative patients reported only 45% full-term births (P = 0.0012). Genetic-positive patients also had more severe disease by Yaguchi’s classification, with 21.4% showing retinal folds with all major vessels affected versus 2.6% in genetic-negative patients (P = 0.045). TSPAN12 was the most common mutation (57.1%), and half of those cases exhibited asymmetric disease.
For children with FEVR complicated by tractional maculopathy, vitrectomy improved best-corrected visual acuity from a mean of 20/200 Snellen to 20/80 Snellen (P = 0.001) over a mean follow-up of 14.1 months. Peripapillary temporal angles also widened postoperatively. Better postoperative visual acuity was associated with shorter time between symptom onset and surgery, better preoperative acuity, and several anatomical features including preoperative widening of the outer nuclear layer and foveal avascular zone, and postoperative integrity of the ellipsoid and interdigitation zones. The authors concluded that patient selection is crucial and iatrogenic complications should be avoided. Cryopexy was used in four stage 2 patients in an earlier report to prevent progression to stage 3, where macular vision is lost.
What remains missing are prospective trials with standardised staging and treatment protocols, larger genetically characterised cohorts to clarify genotype-phenotype correlations, and studies that stratify patients by mutation type and disease stage to determine which interventions — cryopexy, vitrectomy, or others — are most effective and for whom.
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 · 1971 · 137 citations
Familial Exudative Vitreoretinopathy
AbstractA family with exudative vitreoretinopathy displayed findings similar to earlier reported cases of this disease and enabled us to expand the original observations. The disease appears to have three clinical stages and is slowly progressive. This family exhibits an autosomal dominant hereditary pattern. Four patients in stage 2 were treated with cryopexy to prevent progression of the disease to stage 3 where macular vision is lost. Early examination is stressed in suspected individuals.
AbstractEight family members had familial exudative vitreoretinopathy. They exhibited a variety of clinical stages of the disease process. Some clinical findings included retinal detachment, fibrovascular masses with dragged disc and macula, neovascular fronds and intraretinal deposits. The fundus and angiographic findings were found to be similar to those in cases reported previously. Electroretinograms were normal. Of particular interest in this pedigree was the sole clinical finding of isolated intraretinal deposits in four family members. This characteristic may represent a mild expression of the disease and warrant appropriate genetic counseling. Our study confirms the variable clinical expression of the disease.
OCULAR FINDINGS IN CUTIS MARMORATA TELANGIECTATICA CONGENITA
AbstractBACKGROUND: Cutis marmorata telangiectatica congenita is a rare, cutaneous, reticulated, vascular anomaly characterized by congenital persistent cutis marmorata, telangiectasis, and phlebectasis. While systemic abnormalities frequently are associated with cutis marmorata telangiectatica congenita, ophthalmic abnormalities are quite rare and include congenital glaucoma and congenital, bilateral, total retinal detachments with secondary glaucoma. METHODS: The authors report a case of bilateral, tractional retinal detachments associated with peripheral fibrovascular proliferation simulating familial exudative vitreoretinopathy in a female child with cutis marmorata telangiectatica congenita. Molecular genetic analysis of the Norrie's disease gene was performed. RESULTS: After vitrectomy, the posterior poles of both eyes were reattached successfully. No abnormalities of the Norrie's disease gene were identified. CONCLUSIONS: Bilateral exudative vitreoretinopathy is a rare ophthalmic manifestation associated with cutis marmorata telangiectatica congenita.
Clinical and Experimental Ophthalmology · 2025 · 6 citations · open access
Hereditary Vitreoretinopathies: Molecular Diagnosis, Clinical Presentation and Management
AbstractHereditary vitreoretinopathies (HVRs), also known as hereditary vitreoretinal degenerations comprise a heterogeneous group of inherited disorders of the retina and vitreous, collectively and variably characterised by vitreal abnormalities, such as fibrillary condensations, liquefaction or membranes, as well as peripheral retinal abnormalities, vascular changes in some, an increased risk of retinal detachment and early-onset cataract formation. The pathology often involves the vitreoretinal interface in some, while the major underlying abnormality is vascular in others. Recent advances in molecular diagnosis and identification of the responsible genes and have improved our understanding of the pathogenesis, risks and management of the HVRs. Clinically, HVRs can be classified according to the presence or absence of skeletal or other systemic abnormalities, retinal dysfunction or retinal vascular abnormalities [2]. There are some discrepancies in the literature regarding which diseases are included under the overarching term 'hereditary vitreoretinopathies'. Conditions such as Stickler syndrome, Wagner syndrome and familial exudative vitreoretinopathy are generally included, while others such as autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) and autosomal dominant vitreoretinochoroidapathy (ADVIRC) may not. In this review, we will discuss some historical aspects, the molecular pathogenesis, clinical features and management of diseases and syndromes commonly considered as HVRs.
LONG-TERM CLINICAL OUTCOMES AND GENOTYPE–PHENOTYPE CORRELATION IN FAMILIAL EXUDATIVE VITREORETINOPATHY IN A TERTIARY REFERRAL CENTER
AbstractBACKGROUND/PURPOSE: To evaluate clinical outcomes and assess genotype-phenotype correlations in patients with familial exudative vitreoretinopathy (FEVR). METHODS: Clinical charts of 40 patients with FEVR were reviewed. FEVR was staged per Pendergast and Trese, and retinal dragging and folds further classified per Yaguchi et al. We performed whole-exome sequencing and compared clinical characteristics between genetic-positive and genetic-negative groups. RESULTS: The mean duration of follow-up was 5.4 years (range: 0.33, 15) for genetic-positive and 6.9 (range: 1, 20) for genetic-negative patients. The mean age at diagnosis was 5.6 years (0.25, 27) for genetic-positive and 6.0 (0, 32) for genetic-negative patients. Genetic-positive patients reported 100% full-term births and genetic-negative patients reported 45% full-term births ( P = 0.0012). There were more patients with retinal folds with all major vessels affected (Yaguchi's Group 4) in genetic-positive compared with genetic-negative patients (21.4% vs. 2.6%, P = 0.045). TSPAN12 was the most common (57.1%) genetic mutation in our population of which 50% exhibited asymmetric presentation. CONCLUSION: Patients who test positive for a typical FEVR gene mutation reported more term births and had more severe disease by Yaguchi's classification. TSPAN12 was the most common genetic mutation in our population and had highly asymmetrical disease.
SURGICAL OUTCOMES OF TRACTIONAL MACULOPATHY ASSOCIATED WITH FAMILIAL EXUDATIVE VITREORETINOPATHY IN CHILDREN
AbstractPURPOSE: To evaluate the surgical outcomes of pediatric familial exudative vitreoretinopathy complicated by tractional maculopathy. METHODS: Retrospective case series. Chart review of 14 children (15 eyes) diagnosed with tractional maculopathy-complicated familial exudative vitreoretinopathy who received vitrectomy. RESULTS: The mean age at surgery was 7.2 years. The mean follow-up duration was 14.1 months. The logarithm of the minimum angle of resolution of best-corrected visual acuity improved from 1.0 ± 0.6 (20/200 Snellen) to 0.6 ± 0.6 (20/80 Snellen) postoperation (t = 4.293, P = 0.001). The peripapillary temporal inner angle [63.9 (15.7)° vs. 71.1 (31.2)°, z = -2.726, P = 0.006] and peripapillary temporal outer angle (63.4 ± 25.2° vs. 69.6 ± 23.5°, t = -2.820, P = 0.014) widened postoperation. Postoperative best-corrected visual acuity was superior in eyes with a shorter time between symptom onset and surgery (r = 0.688, P = 0.019), better preoperative logarithm of the minimum angle of resolution best-corrected visual acuity (r = 0.830, P < 0.001), and preoperative widening of the outer nuclear layer (r-pb = 0.730, P = 0.007) and foveal avascular zone (r-pb = 0.794, P = 0.002), and in eyes with postoperative ellipsoid (r-pb = 0.641, P = 0.018) and interdigitation zones integrity (r-pb = 0.614, P = 0.026), widening of the outer nuclear layer (r-pb = 0.816, P = 0.001) and foveal avascular zone (r-pb = 0.940, P < 0.001), and absence of the inner retinal layer at the fovea (r-pb = 0.672, P = 0.012). CONCLUSION: Vitrectomy is effective for pediatric familial exudative vitreoretinopathy complicated by tractional maculopathy. Patient selection is crucial and iatrogenic complications should be avoided.
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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