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An ontological foundation for ocular phenotypes and rare eye diseases.

ABSTRACT: BACKGROUND:The optical accessibility of the eye and technological advances in ophthalmic diagnostics have put ophthalmology at the forefront of data-driven medicine. The focus of this study is rare eye disorders, a group of conditions whose clinical heterogeneity and geographic dispersion make data-driven, evidence-based practice particularly challenging. Inter-institutional collaboration and information sharing is crucial but the lack of standardised terminology poses an important barrier. Ontologies are computational tools that include sets of vocabulary terms arranged in hierarchical structures. They can be used to provide robust terminology standards and to enhance data interoperability. Here, we discuss the development of the ophthalmology-related component of two well-established biomedical ontologies, the Human Phenotype Ontology (HPO; includes signs, symptoms and investigation findings) and the Orphanet Rare Disease Ontology (ORDO; includes rare disease nomenclature/nosology). METHODS:A variety of approaches were used including automated matching to existing resources and extensive manual curation. To achieve the latter, a study group including clinicians, patient representatives and ontology developers from 17 countries was formed. A broad range of terms was discussed and validated during a dedicated workshop attended by 60 members of the group. RESULTS:A comprehensive, structured and well-defined set of terms has been agreed on including 1106 terms relating to ocular phenotypes (HPO) and 1202 terms relating to rare eye disease nomenclature (ORDO). These terms and their relevant annotations can be accessed in http://www.human-phenotype-ontology.org/ and http://www.orpha.net/ ; comments, corrections, suggestions and requests for new terms can be made through these websites. This is an ongoing, community-driven endeavour and both HPO and ORDO are regularly updated. CONCLUSIONS:To our knowledge, this is the first effort of such scale to provide terminology standards for the rare eye disease community. We hope that this work will not only improve coding and standardise information exchange in clinical care and research, but also it will catalyse the transition to an evidence-based precision ophthalmology paradigm.

SUBMITTER: Sergouniotis PI

PROVIDER: S-EPMC6327432 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature

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An ontological foundation for ocular phenotypes and rare eye diseases.

Sergouniotis Panagiotis I PI Maxime Emmanuel E Leroux Dorothée D Olry Annie A Thompson Rachel R Rath Ana A Robinson Peter N PN Dollfus Hélène H

Orphanet journal of rare diseases 20190109 1

<h4>Background</h4>The optical accessibility of the eye and technological advances in ophthalmic diagnostics have put ophthalmology at the forefront of data-driven medicine. The focus of this study is rare eye disorders, a group of conditions whose clinical heterogeneity and geographic dispersion make data-driven, evidence-based practice particularly challenging. Inter-institutional collaboration and information sharing is crucial but the lack of standardised terminology poses an important barri ...[more]

PMID: 30626441

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Project description:ObjectiveTo assess the prevalence of cerebral stroke in the general population of Beijing and its association with systemic risk factors and ocular diseases.SettingThe population-based Beijing Eye Study was conducted in a rural and urban region of Beijing.ParticipantsWith eligibility criteria of age 50+ years and living in the study regions, 3468 subjects (78.8%) out of 4403 eligible individuals participated.Primary and secondary outcome measuresThe study participants underwent a detailed systemic and ophthalmological examination and an interview in which the occurrence of a previous stroke was assessed.ResultsA previous stroke was reported by 235 individuals (7.33%; 95% CI 6.43% to 8.24%). The prevalence of previous stroke increased from 2.0% (95% CI 0.9% to 3.1%) in the age group of 50 to <55 years to 21.9% (95% CI 16.4% to 27.4%) in the age group of 80+ years. In multivariable regression analysis, a higher prevalence of previous stroke was correlated (Nagelkerke R2=0.20) with the systemic parameters of older age (p<0.001; OR 1.06; 95% CI 1.04 to 1.08), male gender (p<0.001; OR 0.54; 95% CI 0.40 to 0.74), lower quality of life score (p<0.001; OR 1.39; 95% CI 1.25 to 1.55), higher prevalence of arterial hypertension (p<0.001; OR 2.86; 95% CI 2.05 to 3.98), and cardiovascular disease (p<0.001; OR 1.8554; 95% CI 1.34 to 2.56), and with the ocular parameter of higher prevalence of diabetic retinopathy (p<0.001; OR 4.41; 95% CI 2.38 to 8.18) or alternatively, with higher stage of diabetic retinopathy (p<0.001; OR 1.64; 95% CI 1.26 to 2.14).ConclusionsIn this North Chinese population aged 50+ years, the prevalence of a previous stroke was 7.33% (95% CI 6.43% to 8.24%). After adjusting for systemic risk factors of older age, male gender and higher prevalence of arterial hypertension and cardiovascular disease, a higher prevalence of a previous stroke was significantly correlated with a higher prevalence and stage of diabetic retinopathy. The prevalence of a previous stroke increased for each step of an increase in the stage of diabetic retinopathy with an OR of 1.64 (95% CI 1.26 to 2.14), and it increased by the presence of diabetic retinopathy with an OR of 4.41 (95% CI 2.38 to 8.18).

Dataset Information

An ontological foundation for ocular phenotypes and rare eye diseases.

Publications

An ontological foundation for ocular phenotypes and rare eye diseases.

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