DeCure for Blepharophimosis, ptosis, and epicanthus inversus syndrome
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for blepharophimosis, ptosis, and epicanthus inversus syndrome — 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 moduleBlepharophimosis, ptosis, and epicanthus inversus syndrome 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 blepharophimosis, ptosis, and epicanthus inversus syndrome 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
forkhead box L2 (FOXL2) — FOXL2 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 7VOU · 3.1 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
A 1993 report describes a father and two sons with blepharophimosis, ptosis, polythelia and brachydactyly, apparently without other abnormalities. The authors state the features do not fit any previously described syndrome and note resemblance to blepharophimosis-ptosis-epicanthus inversus syndrome. Inheritance is described as probably autosomal dominant.
A 2019 surgical series reports on 33 patients with blepharophimosis syndrome operated on since 1997 for correction of palpebral ptosis and epicanthal fold. Ptosis was corrected with suspension of the eyelid to the eyebrow using temporalis fascia grafts. Double opposing Z plasty was applied on the medial corner of the eye to correct both epicanthus inversus and telecanthus. The authors report that 30 cases of ptosis were corrected with satisfactory results; three patients required secondary revisions. They state that double opposing Z plasties are superior to other correction methods for epicanthus inversus and that all epicanthal folds were corrected with satisfactory results. The paper recommends ptosis correction as soon as possible after birth to avoid amblyopia.
A 2015 case report describes a two-month-old male, sixth child of a first-cousin consanguineous marriage, with typical features of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES): bilateral shortening of horizontal and vertical palpebral fissures, bilateral eyelid drooping, and lateral displacement of inner canthi with a small skin-fold. The patient had normal psychomotor development. His father was similarly affected, suggesting autosomal dominant inheritance. The patient also had red brown hair, lymphedema of lower limbs and kidney stones, which the authors state were not reported before with this syndrome and are most probably associations.
A 2024 clinical report notes that BPES in women may be accompanied by premature ovarian insufficiency and related infertility. It recommends that women with BPES should have an AMH assessment regardless of the ultrasound picture of the pelvic organs. No drug treatment is mentioned in any of these abstracts. What is missing is any pharmacological intervention for the syndrome itself; the only management described is surgical correction of eyelid deformities. There is no trial design, no patient stratification beyond surgical case series, and no funding directed at a drug-based therapy.
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 Dysmorphology · 1993 · 6 citations
Blepharophimosis, ptosos, polythelia and brachydactyly (BPPB)
AbstractA father and two sons with blepharophimosis, ptosis, polythelia and brachydactyly are presented, apparently without other abnormalities. The features do not fit into any previously described syndrome. This condition may represent a hitherto undescribed syndrome, although resemblance with the blepharophimosis-ptosis-epicanthus inversus syndrome exists. Inheritance is probably autosomal dominant.
Istanbul Bilim University Florence Nightingale Journal of Medicine · 2019 · 0 citations · open access
Blepharophimosis syndrome
AbstractObjectives: Blepharophimosis, ptosis and epicanthus inversus syndrome is a condition that effects development of the eyelids. This condition has narrowing of the eye opening ( blepharophimosis ), droopy eyelids (ptosis) and an upward fold of the skin of the eye ( epicantus inversus ). There is an increased distance between inner corners of the eyes. Patients and methods: Since 1997, 33 patients with blepharophimosis syndrome have been operated on for correction of palpebral ptosis and epicanthal fold. One of the main deformity of blepharophimosis syndrome is blepharoptosis which is corrected with suspension of the eyelid to the eyebrow using temporalis fascia grafts. Double opposing Z plasty application on the medial corner of the eye corrects both epicanthus inversus and telecanthus. Results: Eyelid ptosis correction using the galea grafts provide satisfactory results and without relaps. 30 cases of ptosis had been corrected with satisfactory results; three patient had been operated on for secondary revisions. Double opposing Z plasties are superior to the other correction alternative methods for epicantus inversus . In this study, all epicanthal folds were corrected with satisfactory results. Conclusion: Structural deformities of the Blepharopnimosis syndrome should be corrected for aesthetic concerns. Eyelid ptosis must be corrected as soon as possible after the birth for avoiding the vision loss which called ambliopia.
Egyptian Journal of Medical Human Genetics · 2015 · 0 citations · open access
Blepharophimosis, ptosis, epicanthus inversus syndrome type 2 with red hair, lymphedema of lower limbs and kidney stones in an Egyptian patient
AbstractWe report the case of a 2 month old male, 6th in order of birth of 1st cousin consanguineous marriage with the typical features of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) including bilateral shortening of the horizontal and vertical dimensions of the palpebral fissures, bilateral eye lids drooping, lateral displacement of inner canthi with a small skin-fold obscuring the inner canthus of the eye. Our patient had normal psychomotor development. His father was similarly affected suggesting autosomal dominant inheritance. The patient had red brown hair, lymphedema of lower limbs and kidney stones which were not reported before with this syndrome. Most probably these additional features are associations with BPES.
MODERN PERINATAL MEDICAL TECHNOLOGIES IN SOLVING THE PROBLEM OF DEMOGRAPHIC SECURITY · 2024 · 0 citations
A CLINICAL CASE OF BPES SYNDROME IN THE PRACTICE OF AN OBSTETRICIAN-GYNECOLOGIST
AbstractBlepharophimosis-ptosis-reverse epicanthus syndrome (BPES) is a disease characterized by malformations of the eyelids: ptosis, blepharophimosis and the presence of reverse epicanthus or telecanthus. BPES in women may be accompanied by the syndrome of premature ovarian insufficiency and related infertility. They should recommend an AMH assessment regardless of the ultrasound picture of the pelvic organs.
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.
