DeCure for Ectopia lentis 1, isolated, autosomal dominant
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for ectopia lentis 1, isolated, autosomal dominant — 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 moduleEctopia lentis 1, isolated, autosomal dominant 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 ectopia lentis 1, isolated, autosomal dominant 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
fibrillin 1 (FBN1) — FBN1 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 apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 1UZK · 1.35 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Isolated ectopia lentis with autosomal dominant inheritance has been described in a family where five members across two generations showed the condition, consistent with that inheritance pattern (1979). A 2015 report identified a 6-year-old boy with bilateral superior-temporal ectopia lentis who had a normal echocardiogram and did not meet the revised Ghent criteria for Marfan syndrome. Molecular testing found a c.1948 C>T (p.Arg650Cys) mutation in FBN1, a mutation previously reported only in Marfan syndrome. His mother carried the same FBN1 mutation but had no evidence of ectopia lentis, representing a rare case of non-penetrance. Seven other maternal family members did have ectopia lentis.
A 2012 study of a family with early-onset isolated ectopia lentis found a heterozygous c.184C>T (p.Arg62Cys) mutation in exon 2 of FBN1 in all six affected members and in no unaffected members. Detailed ophthalmic examination revealed novel findings including pupillary abnormality, different types of glaucoma, and progressive hyperopia. Systematic examinations including echocardiogram and skeletal measurements were performed but no specific abnormalities were reported in the abstract.
A 1999 report described monozygotic twin sisters who underwent surgery for craniosynostosis and were later found at age 3 to have bilateral ectopia lentis. The authors noted that ectopia lentis has rarely been reported with craniosynostosis and only in sporadic cases. They considered possible inheritance as autosomal dominant (possibly a new mutation), autosomal recessive, or X-linked with male lethality.
What remains missing is a systematic prospective study that tracks ocular and systemic outcomes over time in patients with isolated ectopia lentis and confirmed FBN1 mutations, particularly to clarify the risk of later aortic or skeletal features. No treatment trials exist for this condition. Patient stratification by specific FBN1 mutation and family history of non-penetrance would be needed to understand variable expressivity.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Clinical Genetics · 1979 · 22 citations
Isolated congenital ectopia lentis with autosomal dominant inheritance
AbstractAlthough autosomal dominant inheritance of isolated ectopia lentis has been described, the literature contains old and unclear reports concerning the evaluation of skeletal or metabolic abnormalities. We report a family in which congenital isolated ectopia lentis occurs in five members of two generations in a pattern consistent with autosomal dominant inheritance.
American Journal of Medical Genetics Part A · 2015 · 16 citations
Early onset ectopia lentis due to a <i>FBN1</i> mutation with non‐penetrance
AbstractIsolated ectopia lentis is usually autosomal dominant and commonly due to the mutations of FBN1 gene. We report on a family with ectopia lentis. The propositus is a 6-year-old boy with bilateral superior-temporal ectopia lentis. His echocardiogram was normal and he did not meet the revised Ghent criteria for Marfan syndrome. Molecular genetic testing revealed c.1948 C>T (p.Arg650Cys) in FBN1. The mother has visual acuity of 20/20 with -4.50 right eye and -2.50 left eye. She has no evidence of ectopia lentis. DNA analysis revealed that she has the same FBN1 mutation. Seven other maternal family members also have ectopia lentis. In conclusion, we report on a case of early-onset autosomal dominant isolated ectopia lentis caused by FBN1 mutation that has previously been reported only in Marfan syndrome. The child's mother presumably represents a rare case of nonpenetrance.
Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (<i>FBN1</i>)
AbstractPURPOSE: The purpose of this paper is to describe ophthalmic findings in a family with isolated ectopia lentis (EL) caused by a specific FBN1 mutation. METHODS: Detailed family histories and clinical data were recorded for six isolated EL patients of 11 family members. The ophthalmological and systematic examinations were performed on patients and unaffected members of the investigated family. The detailed ocular examinations included visual acuity, anterior chamber depth, pupil size, lens location, optometry, central corneal thickness, keratometry, slitlamp examination, fundus examination, axial length, ocular B-ultrasound, gonioscope checking, ultrasound biomicroscopy (UBM) and intraocular pressure (IOP; Goldmann applanation tonometer). Systematic examinations included the measurement of echocardiogram, height, arm span, skull, face, jaw, tooth, breast bone, spinal column, and skin. Genomic DNA was extracted using the phenol-chloroform extraction method for all subjects, and sequencing was carried out on an ABI Prism 3730 Genetic Analyzer. RESULTS: A heterozygous mutation, c.184C>T (p.Arg62Cys) in exon 2 of FBN1 was identified in all affected members but was not found in any unaffected member of the family. Our study presented detailed clinical manifestations, including some novel ophthalmic findings, such as pupillary abnormality, different types of glaucoma, and progressive hyperopia. CONCLUSIONS: Ophthalmic findings and the p.Arg62Cys mutation of FBN1 gene were reported in a family with early-onset isolated ectopia lentis.
American Journal of Medical Genetics · 1999 · 7 citations
Craniosynostosis associated with ectopia lentis in monozygotic twin sisters
AbstractEctopia lentis has rarely been reported to occur in association with craniosynostosis, and this was found only in sporadic cases. We report on twin sisters who underwent surgery for craniosynostosis and later on, at age 3 years, were found to have bilateral ectopia lentis. Molecular studies yielded a probability of monozygosity of more than 0.98. Inheritance of the syndrome may be autosomal dominant, possibly due to a new mutation, autosomal recessive, or X-linked with male lethality.
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.
