DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for macular dystrophy, retinal — 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 moduleMacular dystrophy, retinal 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 macular dystrophy, retinal 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
glycogen phosphorylase, muscle associated (PYGM) — PYGM 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 ampdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 1Z8D · 2.3 Å · ligand ADENOSINE MONOPHOSPHATE (AMP). Experimental structure, not a prediction.
What the evidence adds up to
Hereditary retinal dystrophies are a heterogeneous group of conditions that cause progressive visual impairment, and no established therapy exists for most of them. A 2013 systematic review of therapeutic approaches for retinitis pigmentosa found that while research into gene therapy, pharmacological agents, neuroprotection, electrical stimulation, retinal implants, cell transplantation, and optogenetics has advanced, no treatment is yet established. A 2015 review noted that many ongoing trials aim to determine whether any pharmacological therapy can reverse or at least halt the natural course of these disorders, and that some success has been achieved in treating complications such as cystoid macular oedema and choroidal neovascularisation.
A 2020 observational study of 26 patients (52 eyes) with inherited macular dystrophies at a tertiary centre in Nepal found a mean age of presentation of 28.38 years, with blurring of vision as the most common symptom (96.15%). Mean visual acuity was 0.67 logMAR units in the right eye and 0.71 in the left. The most common diagnosis was cone dystrophy, followed by adult vitelliform macular dystrophy and Stargardt disease. Most patients presented in the first two decades of life.
A 2025 case report identified two patients with novel pathogenic variants in the PHYH gene, confirming Refsum disease. One patient, a 50-year-old woman, presented with retinitis pigmentosa and poor vision since childhood; her phytanic acid level was 256 µg/mL (normal < 3 µg/mL). The other, a 57-year-old man, presented with pigmentary changes at the macula; his phytanic acid level was 48.2 µmol/L (normal < 2.2 µmol/L). Both had systemic features including abnormal metatarsals and dry skin; the woman also had anosmia, kidney disease, peripheral neuropathy, and mild hearing impairment. The report documents for the first time an association between macular dystrophy and Refsum disease, and states that while early diagnosis allows dietary modification to improve prognosis for systemic complications, improvements in vision, slowing retinal degeneration, and overcoming refractory miosis are less achievable.
What is still missing is a proven pharmacological therapy that can reverse or stop the natural course of most inherited retinal dystrophies. The research remains at different stages across various approaches, and no established treatment exists for the majority of patients. Larger, well-designed trials with clear patient stratification based on genetic and phenotypic subtypes are needed, as is sustained funding to move candidate therapies from preclinical and early clinical work into definitive studies.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
A CASE OF HYPOTRICHOSIS WITH JUVENILE MACULAR DYSTROPHY
AbstractIn Brief Purpose: To report a very rare case of hypotrichosis with juvenile macular dystrophy. Methods: Clinical case report and literature review. Results: A 6-year-old boy was referred to us for a retinal evaluation after retinal defects were found bilaterally by his optometrist. His ocular symptoms included decreased visual acuity and light sensitivity. His ocular history was unremarkable. Review of systems was positive for hypotrichosis. Fundus examination revealed bull's eye maculopathy bilaterally. The patient was found to have a cadherin-3 genetic defect, which is associated with hypotrichosis with juvenile macular dystrophy. In follow-up, fundus autofluorescence revealed severe hypoautofluorescence with severe retinal pigment epithelium loss, and spectral domain optical coherence tomography showed evidence of retinal pigment epithelium, photoreceptor, and inner segment/outer segment disruption bilaterally. Conclusion: Hypotrichosis with juvenile macular dystrophy is a very rare genetic disorder that should be in the differential for macular degeneration during the first 4 decades of life. A detailed review of systems should always be performed on these patients. A case report of a 6-year-old boy who developed bull's eye maculopathy bilaterally. A workup for Stargardt disease was negative. Review of systems was positive for poor hair growth. Mutation in the cadherin-3 protein was found, which is linked to hypotrichosis with juvenile macular dystrophy.
AbstractFenestrated sheen macular dystrophy is an autosomal dominant macular disorder characterized by the presence in the central macular zone of a golden sheen with tiny red fenestrations. Even in the later stages, only a mild functional disturbance has been observed. There were five patients manifesting this dystrophy in two generations of a family. They represent the third family so described.
Developments in ophthalmology · 2015 · 5 citations
Retinal Hereditary and Degenerative/Dystrophic Diseases (Non-Age-Related Macular Degeneration)
AbstractThe definition of hereditary retinal diseases includes heterogeneous conditions leading to significant visual impairment. Great strides are being made in the management of many of these dystrophies, with many ongoing trials aiming to ascertain if a pharmacological therapy can reverse or at least stop the natural course of these disorders. In addition, good results have also been achieved in the treatment of typical complications of inherited dystrophies such as cystoid macular edema and choroidal neovascularization.
Klinische Monatsblätter für Augenheilkunde · 2013 · 1 citations
Therapeutische Ansätze bei Patienten mit Retinitis pigmentosa
Abstract<b>Hintergrund:</b> Retinitis pigmentosa (RP) bezeichnet einen genetisch und klinisch heterogenen Formenkreis an dystrophischen Netzhauterkrankungen. Im Verlauf der Erkrankung kommt es zu zunehmenden Gesichtsfeldeinschränkungen bis hin zur Erblindung. Bisher ist keine Therapie etabliert. Durch zunehmendes Wissen über die zugrunde liegenden genetischen und pathophysiologischen Veränderungen gibt es eine Reihe von neuen Therapieansätzen, von denen einige hier vorgestellt werden sollen. <b>Methodik:</b> Es wurde eine systematische Literaturrecherche in PubMed zu definierten Stichworten durchgeführt. <b>Ergebnisse:</b> Zu den neuen Therapieansätzen gehören Gentherapie, pharmakologische Substanzen, Neuroprotektion, Elektrostimulation, retinale Implantate, Zelltransplantation und optogenetische Ansätze. <b>Schlussfolgerung:</b> In den letzten Jahren gab es einige Fortschritte in der Erforschung möglicher Therapieansätze bei dystrophischen Netzhauterkrankungen. Die Forschung ist in den einzelnen Bereichen unterschiedlich weit fortgeschritten. Obwohl es nach wie vor keine etablierte Therapie gibt, stehen die Chancen gut, dass in Zukunft zumindest einem Teil der RP-Patienten eine Therapie angeboten werden kann.
Identification of novel pathogenic variants in the <i>PHYH</i> gene and extending the phenotypic range in Refsum disease
AbstractPurpose Two patients with a suspected inherited retinal dystrophy (IRD) were referred to a specialist ophthalmology clinic for genetic testing to determine the cause of their disease.Case Report A 50-year-old female patient (P1) presented with retinitis pigmentosa and poor vision since childhood. Molecular genetic testing in P1 revealed two novel pathogenic variants in PHYH (NM_006214.4): p.(Val93*) and p.(Asn71Ilefs*23). A 57-year-old male patient (P2) presented with pigmentary changes at the macula. Molecular genetic testing in P2 revealed two novel variants in PHYN: p.(Phe183Ser) and c.2461G>C (splice acceptor). Both patients were referred to the metabolic disease clinic and phytanic acid levels were found to be 256 µg/mL in P1 (normal is < 3 µg/mL) and 48.2 µmol/L in P2 (normal is < 2.2 µmol/L) confirming the diagnosis of Refsum disease. Both patients shared systemic features of the disease including bilaterally abnormal metatarsals and dry skin, while P1 also had characteristic anosmia, kidney disease, peripheral neuropathy and mild hearing impairment.Conclusion We document for the first time an association between macular dystrophy and Refsum disease. Early diagnosis is important so that diet can be modified to improve prognosis for the complications associated with Refsum disease, although improvements in vision, slowing the retinal degeneration and overcoming refractory miosis, are less achievable.
Journal of Nepal Health Research Council · 2020 · 0 citations · open access
Inherited Macular Dystrophies in a Tertiary Care Centre
AbstractBACKGROUND: Inherited macular dystrophies constitute a group of diseases characterized by bilateral central visual loss with symmetrical macular abnormalities usually presenting in the first two decades of life. The aim of this study were to find out the demographic characteristics and disease pattern of inherited retinal dystrophies in subjects attending retina outpatient department in a tertiary care center. METHODS: An observational study among twenty-six participants diagnosed as macular dystrophy visiting a tertiary care centre in Nepal, during January 2018 to June 2018 were included in the study. Detailed history, slit lamp examination, dilated fundus examination, coloured fundus photography, full field electroretinogram, multifocal electroretinogram, automated visual field and colour vision were done. RESULTS: A total of 52 eyes of 26 subjects were diagnosed with macular dystrophy. The male to female ratio was 1:1. The mean age of presentation was 28.38 years. Most common symptom was blurring of vision seen in 96.15%.The mean visual acuity was 0.67 log mar units in right eye and 0.71 log mar units in the left eye. The most common macular dystrophy was cone dystrophy followed by adult vitelliform macular dystrophy and Stargardts dystrophy. CONCLUSIONS: Cone dystrophy is the most common followed by Stargardt's disease and adult vitelliform macular dystrophy. Most presented in the first two decades of life and the most common presenting symptom was blurring of vision.
International Journal of Surgery Science · 2019 · 0 citations · open access
Childhood idiopathic bilateral macular dystrophy (New entity)
AbstractMacular dystrophies correspond to hereditary diseases affecting the macular region and associating primary abnormalities of the pigment epithelium and the sensory retina, which appear in children or young adults, the aim of this work is to report an atypical case of idiopathic bilateral macular dystrophy observed in a 9-year-old child. It is a new clinical entity of macular dystrophies in children, which remains rare and can be complicated by choroidal neovascularization.
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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