DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for vitelliform macular dystrophy — screening already-approved drugs against its 4-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleVitelliform macular dystrophy maps to a 4-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 vitelliform macular dystrophy 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
bestrophin 1 (BEST1) — BEST1 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 mc3drag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 8D1I · 1.82 Å · ligand 1,2-DIMYRISTOYL-RAC-GLYCERO-3-PHOSPHOCHOLINE (MC3). Experimental structure, not a prediction.
What the evidence adds up to
A 20-year-old boy with Best vitelliform macular dystrophy presented with progressive visual loss in his left eye. Fundus examination showed a typical vitelliform lesion in the right eye and a macular hole in the left eye. The electroretinogram Arden ratio was less than 1.1 in both eyes. Optical coherence tomography revealed deposition of hyperreflective material and a hyporeflective area between the photoreceptor inner and outer segment junction and the retinal pigment epithelium in the right eye, and a large full-thickness macular hole with cystoid changes in the left eye. No retinal detachment was present. The authors concluded that macular hole, though extremely rare, should be considered as a cause of significant visual loss in these patients.
Best vitelliform macular dystrophy can be a phenocopy of North Carolina Macular Dystrophy (NCMD). In a study of 5 individuals with NCMD and 3 with Best disease, two NCMD subjects had an abnormal electrooculogram with a normal electroretinogram, which had been considered a unique feature of Best disease. Spectral domain optical coherence tomography in one Best disease subject showed a small lucency or excavation into the choroid similar to grade 3 lesions of NCMD. Two NCMD subjects had elevated sub-macular lesions giving a pseudo-vitelliform appearance on OCT. The authors concluded there is considerable clinical overlap between NCMD and Best disease, which can cause diagnostic inaccuracies.
A 54-year-old man presented with gradual-onset blurred near vision. Best-corrected distance acuities were 20/20 in each eye. Dilated fundoscopy revealed macular pseudohypopyon in each eye. Electrooculography findings were consistent with Best vitelliform macular dystrophy of atypical, late onset. Adult-onset foveomacular vitelliform dystrophy is a rare disease that shares heritance features with Best disease, with onset in the 3rd to 5th decade. Visual acuity ranges from 20/25 to 20/50, and the electro-oculogram may be normal or subnormal. A three-generation diagnostic dilemma was reported in a case of vitelliform macular dystrophy with features suggestive of both Best disease and adult-onset vitelliform macular dystrophy, highlighting that differentiation between types can be cumbersome when age of onset, clinical findings, and inheritance are studied.
What is still missing is a clear molecular or imaging-based distinction between Best disease and adult-onset vitelliform macular dystrophy, particularly in atypical or late-onset presentations. No treatment trials are reported in these abstracts, and no drug interventions are mentioned. The natural history and visual prognosis for the adult-onset form appear better than for childhood-onset Best disease, but patient stratification by genotype and longitudinal functional data remain absent.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
AbstractIn Brief Purpose: To report a case of Best vitelliform macular dystrophy complicated by macular hole. Methods: History and clinical examination, electroretinogram, and optical coherence tomography. Results: We report a case of a 20-year-old boy with progressive visual loss in his left eye. In fundus examination, there was a typical vitelliform lesion in the right eye and a macular hole in the left eye. The electroretinogram Arden ratio was <1.1 in both eyes. Optical coherence tomography revealed deposition of hyperreflective material and hyporeflective area between the junction of the inner segment and outer segment of the photoreceptors and the retinal pigment epithelium in the right eye, and large full-thickness macular hole with cystoid changes in the retinal layers in the left eye. There was no associated retinal detachment. Conclusion: Although extremely rare, macular hole should be considered as a cause of the significant visual loss in patients with Best vitelliform macular dystrophy. The authors report a case of presumed autosomal recessive Best disease with vitelliform lesion in one eye and macular hole in another eye. Spectral domain optical coherence tomography revealed typical changes of vitelliform stage in the right eye and full-thickness macular hole with cystoid changes in the left eye.
Best Vitelliform Macular Dystrophy (BVMD) is a phenocopy of North Carolina Macular Dystrophy (NCMD/MCDR1)
AbstractPURPOSE: North Carolina Macular Dystrophy (NCMD) and Best Vitelliform Macular Dystrophy (BVMD) are rare autosomal dominant macular dystrophies. Both BVMD and NCMD have markedly variable expressivity. In some individuals, it can be difficult to differentiate between the two disease entities. METHODS: Clinical findings including fundus photography, fundus autofluorescence (FAF), and spectral domain optical coherence tomography (SD-OCT) were evaluated in 5 individuals with NCMD and 3 with BMD. Electrooculography (EOG) was performed in 2 NCMD subjects. Molecular diagnosis was performed using Sanger DNA sequencing. IRB approval was obtained. RESULTS: gene. Two NCMD subjects had an abnormal EOG with a normal ERG, which has been considered a unique feature of BVMD. SD-OCT in one BVMD subject demonstrated a small lucency/excavation into the choroid similar to that in grade 3 lesions of NCMD. Two NCMD subjects had elevated sub-macular lesions giving a pseudo-vitelliform appearance on OCT similar to BVMD. CONCLUSION: Best Vitelliform Macular Dystrophy can be a phenocopy of NCMD. There is considerable clinical overlap between NCMD and BVMD, which can cause diagnostic inaccuracies. Our new findings demonstrate that like BVMD, NCMD can also have an abnormal EOG with a normal ERG. The overlapping phenotypes of BVMD with NCMD may provide insights into the mechanisms of the macular changes.
Electrooculography and Optical Coherence Tomography Reveal Late‐Onset Best Disease
AbstractPURPOSE: Best vitelliform macular dystrophy, also known as Best disease, is a macular dystrophy characterized by bilateral yellowish egg yolk-like lesion(s) present within the maculae. It is a slowly progressive disease that usually presents at childhood. Best vitelliform macular dystrophy frequently proceeds through stages, beginning with a classic presentation described as vitelliform. A similar condition, known as adult-onset foveomacular vitelliform dystrophy, has been described among adult patients. Although the two maculopathies may look similar, they are considered two separate entities, because of the age of onset and overall clinical presentation. CASE REPORT: A 54-year-old man presented with gradual-onset blurred near vision in each eye. Previous records showed a history of unremarkable dilated fundus examinations for the past 8 years. Best-corrected distance acuities measured 20/20 OD and 20/20 OS. Amsler grid testing revealed a mild metamorphopsia OD and OS. Dilated fundoscopy revealed macular pseudohypopyon in each eye. In vivo imaging of the maculae was obtained with spectral-domain optical coherence tomography findings. Electrooculography findings were consistent with Best vitelliform macular dystrophy of atypical, late onset. CONCLUSIONS: Best vitelliform macular dystrophy may vary in its presentation. Electrooculography and spectral-domain optical coherence tomography can aid in establishing the definitive diagnosis.
Revista de Medicina da UFC · 2018 · 1 citations · open access
Adult-onset vitelliform macular dystrophy: case report
AbstractAdult-onset foveomacular vitelliform dystrophy is a rare disease. It shares heritance features with Best disease. Its onset is in the 3rd and 5th decade, and it is characterized by subretinal deposition of yellowish material in the foveal area. Visual acuity ranges from 20/25 to 20/50, which can be seen in routine examination. Patient remains with good visual function throughout theirs lives. Typically the electro-oculogram may be normal or subnormal. We present a case of adult-onset vitelliform macular dystrophy, diagnosed in a patient with complaint of bilateral blurred vision.
Indian Journal of Ophthalmology - Case Reports · 2023 · 0 citations · open access
Atypical best disease or AOVMD? A three-generation diagnostic dilemma
AbstractVitelliform macular dystrophy is an inherited condition with a gradual decrease in visual function. Differentiation between the various types may be cumbersome when the age of onset, clinical findings, and inheritance are studied. Best disease can present in childhood with progressive and characteristic changes in the macula. Adult-onset vitelliform macular dystrophy (AOVMD) occurs after the second decade with a variation in the clinical and investigational findings. We report a case of vitelliform macular dystrophy with features suggestive of Best disease as well as AOVMD.
Modern technologies in ophtalmology · 2024 · 0 citations
Macular neovascularization in vitelliform dystrophy: anti-VEGF treatment efficacy analysis based on clinical cases
AbstractBest vitelliform macular dystrophy (BVMD) is caused by BEST1 mutation and leads to the accumulation of vitelliform material in the subretinal space. The formation of subretinal neovascular membrane can be one of BVMD complications. Herein, we discuss the criteria for initiating anti-VEGF therapy and efficacy assessment in two patients (3 eyes) with vitelliform macular dystrophy. Keyword: macular neovascularization, vitelliform macular dystrophy, optical coherence tomography, anti-VEGF therapy
TNOA Journal of Ophthalmic Science and Research · 2025 · 0 citations · open access
A Rare Case of Adult-onset Foveomacular Vitelliform Dystrophy
AbstractAbstract Adult-onset foveomacular vitelliform dystrophy (AOFVD), an uncommon macular disorder, develops between the third and sixth decades of life. It is usually asymptomatic and detected during a routine examination or may present with variable symptoms, including vision distortion, scotoma, and mild visual impairment. Here, we discuss a case of bilateral AOFVD in an individual with no reported vision distortion, its characteristic features for diagnosis and management.
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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