An algorithm as a diagnostic tool for central ocular motor disorders, also to diagnose rare disorders
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(2019) 14:193
RESEARCH
Open Access
An algorithm as a diagnostic tool for central ocular motor disorders, also to diagnose rare disorders Ludwig Kraus1* , Olympia Kremmyda1, Tatiana Bremova-Ertl1,2, Sebastià Barceló3, Katharina Feil1 and Michael Strupp1
Abstract Background: Recently an increasing number of digital tools to aid clinical work have been published. This study’s aim was to create an algorithm which can assist physicians as a “digital expert” with the differential diagnosis of central ocular motor disorders, in particular in rare diseases. Results: The algorithm’s input consists of a maximum of 60 neurological and oculomotor signs and symptoms. The output is a list of the most probable diagnoses out of 14 alternatives and the most likely topographical anatomical localizations out of eight alternatives. Positive points are given for disease-associated symptoms, negative points for symptoms unlikely to occur with a disease. The accuracy of the algorithm was evaluated using the two diagnoses and two brain zones with the highest scores. In a first step, a dataset of 102 patients (56 males, 48.0 ± 22 yrs) with various central ocular motor disorders and underlying diseases, with a particular focus on rare diseases, was used as the basis for developing the algorithm iteratively. In a second step, the algorithm was validated with a dataset of 104 patients (59 males, 46.0 ± 23 yrs). For 12/14 diseases, the algorithm showed a sensitivity of between 80 and 100% and the specificity of 9/14 diseases was between 82 and 95% (e.g., 100% sensitivity and 75.5% specificity for Niemann Pick type C, and 80% specificity and 91.5% sensitivity for Gaucher’s disease). In terms of a topographic anatomical diagnosis, the sensitivity was between 77 and 100% for 4/8 brain zones, and the specificity of 5/8 zones ranged between 79 and 99%. Conclusion: This algorithm using our knowledge of the functional anatomy of the ocular motor system and possible underlying diseases is a useful tool, in particular for the diagnosis of rare diseases associated with typical central ocular motor disorders, which are often overlooked. Keywords: Ocular motor disorder, Algorithm, Niemann pick type C, Gaucher’s disease type 3, Ataxia teleangiectasia, Ataxia with oculomotor apraxia, Progressive supranuclear palsy, Wernicke encephalopathy
Background Clinical practice shows that the diagnosis of rare diseases and central ocular motor disorders is often difficult, even for neurologists. On the other hand, we do have detailed knowledge on the anatomy, physiology and pathophysiology of ocular motor disorders, which allows a precise topographic anatomical diagnosis based on bedside examination even without any * Correspondence: [email protected] 1 Department of Neurology and German Center for Vertigo and Balance Disorders, Ludwig-Maximilians University, Munich, Campus Grosshadern, Marchioninistr. 15, 81377 Munich, Germany Full list of author information is available at the end of the article
laboratory examinations [1] (see Table 3 for a short descriptio
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