Anjum Fatima, Maqbool Fahad, Razzaq Muhammad Saad, Shehzad Hafiz Muhammad Faisal, Ali Shujaat, Shah Dilawar, Tahir Muhammad, Ilyas Muhammad
Department of Computer Science, University of Sargodha, Sargodha, Pakistan.
Department of Computer Science, Bacha Khan University, Charsadda, Pakistan.
Sci Rep. 2025 Aug 16;15(1):29986. doi: 10.1038/s41598-025-15885-x.
Vision is a vital sense that allows people to interact with their surroundings and carry out tasks efficiently while maintaining safety and independence. At least 2.2 billion people globally suffer from blindness or vision impairment, of which more than 1 billion cases are avoidable or untreated because they lack access to eye care services. In ophthalmology, there are numerous challenges in knowledge organization and management, mainly due to the complexity of eye diseases. Ontologies are used as excellent tools for organizing and managing complicated information due to their structured representations of domain knowledge and to make data more findable, accessible, interoperable, and reusable. We have developed an ontology, that is, Eye Disease Ontology (EDO), for the most common eye diseases as a resource that helps in data extraction and analysis for the general public and medical professionals. EDO is a comprehensive and systematic knowledge representation system that categorizes and organizes information about commonly occurring eye diseases such as cataracts, glaucoma, age-related macular degeneration, etc, and connects it to vital details such as symptoms, causes, risk factors, diagnostic tests, and treatment options. The significant metrics of EDO include 566 classes, 16 object properties, 12 data properties, and 119 instances. In this study, the ontology of eye diseases has the potential to improve clinical diagnosis, advance research, and enrich medical education, while improving patient care. This ontology was created using the NeOn technique in the Protégé/OWL environment. Several competency questions were created to meet the demands of various stakeholders, and the ontology was validated using SPARQL queries, the Hermit Reasoner, and the OOPS Pitfalls Scanner. In addition, we develop comprehensive documentation for EDO to promote reuse and emphasise the importance of reuse in future applications.
视觉是一种至关重要的感官,它使人们能够与周围环境互动,并在保持安全和独立的同时高效地执行任务。全球至少有22亿人患有失明或视力障碍,其中超过10亿例是可以避免或未得到治疗的,因为他们无法获得眼科护理服务。在眼科领域,知识组织和管理存在诸多挑战,主要是由于眼部疾病的复杂性。本体作为组织和管理复杂信息的优秀工具,因其对领域知识的结构化表示,能使数据更易查找、访问、互操作和重用。我们针对最常见的眼部疾病开发了一种本体,即眼病本体(EDO),作为一种资源,有助于普通公众和医学专业人员进行数据提取和分析。EDO是一个全面、系统的知识表示系统,它对白内障、青光眼、年龄相关性黄斑变性等常见眼病的信息进行分类和组织,并将其与症状、病因、风险因素、诊断测试和治疗方案等关键细节相联系。EDO的重要指标包括566个类、16个对象属性、12个数据属性和119个实例。在本研究中,眼病本体有潜力改善临床诊断、推进研究、丰富医学教育,同时改善患者护理。该本体是在Protégé/OWL环境中使用NeOn技术创建的。创建了几个能力问题以满足不同利益相关者的需求,并使用SPARQL查询、Hermit推理机和OOPS缺陷扫描器对本体进行了验证。此外,我们为EDO开发了全面的文档,以促进重用,并强调重用在未来应用中的重要性。