DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for color vision disorder — screening already-approved drugs against its 37-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleColor vision disorder maps to a 37-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 color vision disorder 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
monoglyceride lipase (MGLL) — MGLL 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 7r,9ardrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7ZPG · 1.16 Å · ligand [(7R,9aR)-7-(4-chlorophenyl)-1,3,4,6,7,8,9,9a-octahydropyrido[1,2-a]pyrazin-2-yl]-(2-bromanyl-3-methoxy-phenyl)methanone (JQX). Experimental structure, not a prediction.
What the evidence adds up to
In a 2011 review of colour vision defects, the authors state that normal colour vision requires three classes of cone photoreceptor and that defects can be inherited or acquired. They note that viral-mediated gene therapy for ocular diseases has been investigated for over a decade and that gene therapy has successfully treated colour blindness in animal models, which they say paves the way toward cures in humans. No human trial results are reported in that abstract.
A 2000 case report describes a patient with little cone function, abnormal macular pigmentation, and optic nerve changes. The patient showed weak cone-based dichromatic colour vision but normal red, green, and blue unique hue judgments. Rod input inhibited colour discrimination. Genetic analysis found no L pigment genes, multiple M pigment genes, and a mutation that inactivates the encoded pigment in a subset of M genes, including one in the first position of the array. The authors link these visual deficits and changes in inner retina integrity to defects in photopigment genes.
A 2005 review explains that inherited colour vision deficiencies most often result from mutations in cone opsin genes. The L and M genes are on the X chromosome in a head-to-tail array; only the first two genes are expressed. Unequal recombination leads to gene deletion or hybrid genes, explaining most red-green deficiencies. S monochromacy is caused by deletion of the regulatory region or mutations that inactivate L and M genes. Complete achromatopsia, a rare disorder involving total loss of cone function, is caused by mutations in genes encoding cone-specific proteins such as channel proteins and transducin, not opsin genes.
A 2024 systematic review on amblyopia reports that traditional treatments such as patching improve visual acuity but do not substantially affect contrast sensitivity or colour vision. The review states that advanced therapies including perceptual learning, dichoptic training, and binocular therapy may improve contrast sensitivity by up to 40% and colour vision by 30%. The review includes 43 full texts, but the abstract does not specify sample sizes, confidence intervals, or whether these improvements were measured in patients with inherited colour vision disorders rather than amblyopia. A 2021 review of dyschromatopsy, achromatopsia, and blue cone monochromatism states that current treatment options are limited and their success rate is low. No drug therapy is mentioned in any of these abstracts. What is missing are completed human trials of gene therapy for inherited colour vision deficiencies, any drug-based intervention tested in patients, and data on whether the improvements reported in amblyopia therapies apply to primary colour vision disorders.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Ophthalmic Wearable Devices for Color Blindness Management
AbstractAbstract Color vision deficiency (CVD) or color blindness is an ocular disorder that hinders the patients from distinguishing shades of certain colors. Color blind patients are often not considered for critical occupations (e.g., military, police) and cannot differentiate colors in public places or media (i.e., watching TV). The most common form of color blindness is red‐green, which is a result of either a missing or defective red or green photoreceptor cone. Since no cure for this disorder exists, sufferers opt for methods to enhance their color perception. The products and methods that have been developed to aid CVD patients are discussed. These technologies include contemporary work on gene therapy, tinted glasses, lenses, optoelectronic glasses, and advanced features developed on smartphones and computers. Among these wearables, tinted glasses, developed by companies such as Enchroma, are the most widely used by CVD patients.
Toxic Amblyopia Caused by Pheniprazine Hydrochloride (JB-516, Catron)
AbstractA recent study of a potent new antihypertensive agent pheniprazine hydrochloride (Catron *) indicated that some of the patients treated with this drug developed color blindness and decreased visual acuity which improved spontaneously when the drug was discontinued.<sup>1</sup>This report deals in more detail with the ophthalmological findings in these and other patients and, in addition, pathological findings are presented which document the toxic nature of the visual defects described. <h3>Materials and Methods</h3> Patients receiving pheniprazine hydrochloride who developed disturbances of visual function were seen in consultation by members of the staff of the Ophthalmology Branch at the National Institutes of Health. Each patient received a complete ophthalmological examination which included the evaluation of color vision with the Hardy-Rand-Rittler Pseudoisochromatic Plates and in some cases the Farnsworth D-15 Panel was used. Autopsy material available from one patient (Case 8) was fixed in 10% formalin 16 hours after death and studied
Encyclopedia of Life Sciences · 2011 · 9 citations
Colour Vision Defects
AbstractAbstract Normal colour vision refers to the form of trichromatic colour vision shared by most individuals. It is mediated by three types of retinal cone photoreceptors, short‐ (S), medium‐ (M) and long‐ (L) wavelength‐sensitive. Colour vision defects can either be inherited as the consequence of genetic defects that affect the function of one or more cone type, or they can be acquired through exposure to neurotoxins or as secondary effects of systemic or ocular diseases. Among individuals with colour vision deficiency, there is tremendous variation in the capacity for colour vision, ranging from no colour vision to nearly normal. Viral‐mediated gene therapy for ocular diseases has been an area of intense investigation over the last decade. Because genetic mutations underlying colour vision deficiencies have been identified, gene therapy may be a viable option for curing various forms of colour blindness in the future. Key Concepts: Normal colour vision requires three classes of cone photoreceptor in the retina: short‐, medium‐ and long‐wavelength sensitive. The hallmark feature of colour vision defects is a reduction in the number of different colours that can be distinguished from each other. Colour vision defects can either be inherited or they can be acquired secondary to disease or through exposure to certain drugs or neurotoxins. Mutations and rearrangements in the genes encoding the short‐, medium‐ and long‐wavelength sensitive photopigments are responsible for inherited colour vision deficiencies. Gene therapy has been successfully used to treat colour blindness in animal models and these experiments pave the way towards cures for colour blindness in humans.
AbstractOver 10,000 scientists, clinicians, trainees and industry representatives gathered in Fort Lauderdale, Florida, USA, recently for the Annual Meeting of the Association for Research in Vision and Ophthalmology (ARVO).In recognition of the challenges that lie ahead for the vision sciences, the theme chosen for the 2011 meeting was 'Visionary Genomics'.We have come a very long way since the days of John Dalton and his 1794 paper on the origins of colour blindness, a condition he shared with his brother. 1 Investigators from the vision research community have worked out the major pathways of how visual information is received, processed and transmitted to the brain, and how specialised tissues such as the cornea and lens work together to focus light on the retina and filter out harmful ultraviolet light.Molecular pathways responsible for the expression and accumulation of crystallins, the specialised proteins that make up 35 per cent of the wet weight of the ocular lens, have been discovered and studied in great detail.Genes for virtually all components of the phototransduction cascade have been identified and studied to define a host of molecular defects associated with anomalous perception of the visual world.Now that we have a comprehensive understanding of the genes responsible for the organisation and functional integration of the visual system, it is reasonable to consider the challenges posed by major heritable vision diseases that either are not treatable or for which current therapies cannot meet the global burden of disease.We can ponder whether the emergence of next-generation genome technologies will lead us closer to discovering new therapeutic strategies and achieving
Srpski arhiv za celokupno lekarstvo · 2005 · 1 citations · open access
Inherited colour vision deficiencies: From Dalton to molecular genetics
AbstractIn recent years, great advances have been made in our understanding of the molecular basis of colour vision defects, as well as of the patterns of genetic variation in individuals with normal colour vision. Molecular genetic analyses have explained the diversity of types and degrees of severity in colour vision anomalies, their frequencies, pronounced individual variations in test results, etc. New techniques have even enabled the determination of John Dalton's real colour vision defect, 150 years after his death. Inherited colour vision deficiencies most often result from the mutations of genes that encode cone opsins. Cone opsin genes are linked to chromosomes 7 (the S or "blue" gene) and X (the L or "red" gene and the M or "green" gene). The L and M genes are located on the q arm of the X chromosome in a head-to-tail array, composed of 2 to 6 (typically 3) genes--a single L is followed by one or more M genes. Only the first two genes of the array are expressed and contribute to the colour vision phenotype. The high degree of homology (96%) between the L and M genes predisposes them to unequal recombination, leading to gene deletion or the formation of hybrid genes (comprising portions of both the L and M genes), explaining the majority of the common red-green colour vision deficiencies. The severity of any deficiency is influenced by the difference in spectral sensitivity between the opsins encoded by the first two genes of the array. A rare defect, S monochromacy, is caused either by the deletion of the regulatory region of the array or by mutations that inactivate the L and M genes. Most recent research concerns the molecular basis of complete achromatopsia, a rare disorder that involves the complete loss of all cone function. This is not caused by mutations in opsin genes, but in other genes that encode cone-specific proteins, e.g. channel proteins and transducin.
Journal of Health and Rehabilitation Research · 2024 · 0 citations · open access
Effect of Amblyopia on Color Vision and Contrast Sensitivity: A Systematic Review
AbstractBackground: This systematic review aims at evaluating broader implications of amblyopia disorder for color vision and contrast sensitivity in the context of challenging the conventional approach to treatment, when visual acuity is only treated. The review will establish whether traditional and modern treatment approaches are effective in improving the above visual functions in patients. It is argued that modern treatments are more effective in ameliorating broader ranges of visual dysfunctions. Methods: For the purpose of the systematic review, a comprehensive search across such databases as PubMed, Web of Science, Scopus, ProQuest to find the studies published from 2008 to 2024 was conducted. Criteria for inclusion in the systematic review comprised of the following the review included randomized clinical trials, cohort studies, case-control studies, and cross-sectional studies if the treatment was related to the impacts on color vision and contrast sensitivity in individuals with amblyopia. The exclusion criteria included the unavailability of section on the treatment analysis. Results: The review conveys the results of studies incorporated of 43 full texts. There was substantial heterogeneity in the type of treatments and outcomes. It was found that traditional treatments, such as patching improves visual acuity, but the approach does not have a substantial effect on contrast sensitivity or color vision. On the other hand, advanced therapies overcoming these traditional deficiencies, such as perceptual learning, dichoptic training, and binocular therapy may improve contrast sensitivity by up to 40% and color vision by 30%, respectively. To conclude, modern approaches are substantially superior to traditional ones. Conclusion: The findings suggest that modern therapies offer a more comprehensive solution for ameliorating a wider range of visual dysfunctions associated with amblyopia. Keywords: Amblyopia, Color Vision, Contrast Sensitivity, Traditional Methods, Binocular Therapy.
Dyschromatopsy, Achromatopsia and Blue Cone Monochromatism; Pathophysiology, Clinical Findings, Diagnosis, and Treatment
AbstractColor vision is a complex perception caused by the stimulation of cone photoreceptors in the retina and the perception of this stimulation in the brain. Hereditary color vision deficiencies are caused by a defect in the functions of cone cells. Color vision deficiencies are named according to three different types of pigments contained in cones. These disorders, which are seen in high prevalence worldwide, are found more frequently in males. Contrary to thought, colored vision defects often affect daily life. Although it can be easily diagnosed with color vision tests and electrophysiological tests, current treatment options are limited and its success rate is low.
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.
