DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for North Carolina macular dystrophy — 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 moduleNorth Carolina macular dystrophy 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 north carolina 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.
What the evidence adds up to
The abstracts provided do not contain any study of North Carolina macular dystrophy. The 1991 abstract on North Carolina's dominant progressive foveal dystrophy is not included in the supplied text; instead, the first abstract concerns obesity and asthma in children. The remaining abstracts cover Bietti crystalline dystrophy, RP1L1-related occult macular dystrophy, a protocol for auditing genetic maculopathy diagnoses in Australia, Stargardt-like phenotypes, and butterfly-shaped macular dystrophy. No data on the natural history, genetics, or treatment of North Carolina macular dystrophy appear in these papers.
One case report describes a 42-year-old man with Bietti crystalline dystrophy who underwent pars plana deep vitrectomy with internal limiting membrane peeling and gas injection for a full-thickness macular hole. His visual acuity improved from counting fingers to 20/50. This is a single case, not a trial, and the condition is distinct from North Carolina macular dystrophy.
A 2024 study of seven Chinese patients with occult macular dystrophy and one with vitelliform macular dystrophy, all carrying heterozygous RP1L1 variants, found that five of the seven OMD patients shared the c.133 C>T; p.R45W variant and showed central vision loss with specific OCT and mfERG patterns. Two patients with different RP1L1 variants had milder phenotypes. One patient with vitelliform macular dystrophy was linked to RP1L1, a novel association. The study emphasises phenotypic diversity but does not address North Carolina macular dystrophy.
A 2023 protocol describes a retrospective audit in Australia to estimate misdiagnosis of macular dystrophy as age-related macular degeneration, aiming to improve diagnostic accuracy and target genetic testing. No results are reported. Another 2023 report describes four patients with Stargardt-like phenotypes who carried pathogenic variants in RIMS1, CRX, CRB1, and RDH12 rather than ABCA4, showing that other genes can mimic Stargardt disease. A 1993 report on two brothers with butterfly-shaped macular dystrophy documents progressive photoreceptor dysfunction over seven years, with ERG abnormalities. None of these studies provide data on North Carolina macular dystrophy.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
British Journal of Ophthalmology · 1991 · 68 citations · open access
North Carolina's dominant progressive foveal dystrophy: how progressive is it?
Abstract<h3>Background</h3> Obese children with asthma are more vulnerable to air pollution, especially fine particulate matter (PM<sub>2.5</sub>), but reasons are poorly understood. We hypothesised that differences in breathing patterns (tidal volume, respiratory rate, and minute ventilation) due to elevated body mass index (BMI) may contribute to this finding. <h3>Objective</h3> To investigate the association of BMI with breathing patterns and deposition of inhaled PM<sub>2.5</sub>. <h3>Methods</h3> Baseline data from a prospective study of children with asthma was analysed (n=174). Tidal breathing was measured by a pitot-tube flowmeter, from which tidal volume, respiratory rate, and minute ventilation were obtained. The association of BMI z-score with breathing patterns was estimated in a multivariable model adjusted for age, height, race, sex, and asthma severity. A particle dosimetry model simulated PM<sub>2.5</sub> lung deposition based on BMI-associated changes in breathing patterns. <h3>Results</h3> Higher BMI was associated with higher tidal volume (adjusted mean difference [aMD] between obese and normal-range BMI of 25 mL, 95% confidence interval [CI] 5–45 mL) and minute ventilation (aMD 453 mL·min<sup>−1</sup>, 95%CI 123–784 mL·min<sup>−1</sup>). Higher tidal volumes caused higher fractional deposition of PM<sub>2.5</sub> in the lung, driven by greater alveolar deposition. This translated into obese participants having greater per-breath retention of inhaled PM<sub>2.5</sub> (aMD in alveolar deposition fraction of 3.4%; 95% CI 1.3–5.5%), leading to worse PM<sub>2.5</sub> deposition rates. <h3>Conclusions</h3> Obese children with asthma breathe at higher tidal volumes that may increase the efficiency of PM<sub>2.5</sub> deposition in the lung. This finding may partially explain why obese children with asthma exhibit greater sensitivity to air pollution.
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.
BMC Ophthalmology · 2024 · 4 citations · open access
Varied clinical presentations of RP1L1 variants in Chinese patients: a study of occult macular dystrophy and vitelliform macular dystrophy
AbstractBACKGROUND: Occult Macular Dystrophy (OMD), primarily caused by retinitis pigmentosa 1-like 1 (RP1L1) variants, is a complex retinal disease characterised by progressive vision loss and a normal fundus appearance. This study aims to investigate the diverse phenotypic expressions and genotypic correlations of OMD in Chinese patients, including a rare case of Vitelliform Macular Dystrophy (VMD) associated with RP1L1. METHODS: We analysed seven OMD patients and one VMD patient, all with heterozygous pathogenic RP1L1 variants. Clinical assessments included Best Corrected Visual Acuity (BCVA), visual field testing, Spectral Domain Optical Coherence Tomography (SD-OCT), multifocal Electroretinograms (mfERGs), and microperimetry. Next-generation sequencing was utilised for genetic analysis. RESULTS: The OMD patients displayed a range of phenotypic variability. Most (5 out of 7) had the RP1L1 variant c.133 C > T; p.R45W, associated with central vision loss and specific patterns in SD-OCT and mfERG. Two patients exhibited different RP1L1 variants (c.3599G > T; p.G1200V and c.2880G > C; p.W960C), presenting milder phenotypes. SD-OCT revealed photoreceptor layer changes, with most patients showing decreased mfERG responses in the central rings. Interestingly, a unique case of VMD linked to the RP1L1 variant was observed, distinct from traditional OMD presentations. CONCLUSIONS: This study highlights the phenotypic diversity within OMD and the broader spectrum of RP1L1-associated macular dystrophies, including a novel association with VMD. The findings emphasise the complexity of RP1L1 variants in determining clinical manifestations, underscoring the need for comprehensive genetic and clinical evaluations in macular dystrophies.
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.
Arquivos Brasileiros de Oftalmologia · 2023 · 2 citations · open access
Macular dystrophies associated with Stargardt-like phenotypes
AbstractPURPOSE: Stargardt-like phenotype has been described as associated with pathogenic variants besides the ABCA4 gene. This study aimed to describe four cases with retinal appearance of Stargardt disease phenotypes and unexpected molecular findings. METHODS: This report reviewed medical records of four patients with macular dystrophy and clinical features of Stargardt disease. Ophthalmic examination, fundus imaging, and next-generation sequencing were performed to evaluate pathogenic variants related to the phenotypes. RESULTS: Patients presented macular atrophy and pigmentary changes suggesting Stargardt disease. The phenotypes of the two patients were associated with autosomal dominant inheritance pattern genes (RIMS1 and CRX) and in the other two patients were associated with recessive dominant inheritance pattern genes (CRB1 and RDH12) with variants predicted to be pathogenic. CONCLUSION: Macular dystrophies may have phenotypic similarities to Stargardt-like phenotype associated with other genes besides the classic ones.
Ophthalmic Paediatrics and Genetics · 1993 · 1 citations
Butterfly-shaped macular dystrophy
AbstractTwo brothers with butterfly-shaped macular dystrophy (BSMD) are reported. The anatomical and functional data were analyzed in 11 family members. Progressive photoreceptor dysfunction, supported by ERG abnormalities, was documented in both patients. The progression of the disease was observed over a period of seven years. The present observations emphasize that BSMD, at least in some cases, can be a chronic progressive disorder with secondary involvement of the photoreceptors.
Case Reports in Ophthalmology · 2012 · 0 citations · open access
Best Macular Dystrophy in a Nigerian: A Case Report
AbstractBest macular dystrophy is reported to be rare in Africans. It is a hereditary disease that starts in childhood and progresses through some stages before visual symptoms occur. This case report presents a 43-year-old Nigerian with the disease and stresses the importance of regular eye exams of patients and relatives to detect changes such as choroidal neovascular membrane amenable to treatment.
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.
