AUTOMATIC DETECTION OF GENETIC EYE DISEASES IN PEDIATRIC AGE USING ML.

      Аннотация: Inherited Retinal Diseases (IRDs) represent a significant cause of severe visual deficits in children. They frequently are cause of blindness in childhood in Established Market Economies (1/3000 individuals). IRDs can be divided into diseases of the outer retina, namely photoreceptor degenerations (e.g., Leber Congenital Amaurosis, Retinitis Pigmentosa, Stargardt disease, Cone Dystrophy, Achromatopsia, Chloridemia, etc.), and diseases of the inner retina, mainly retinalganglion cell degeneration (e.g. congenital glaucoma, dominant optic atrophy, Leber hereditary optic neuropathy). This book presents a novel Clinical Decision Support System (CDSS), based on Machine Learning using Chromatic Pupillometry in order to support diagnosis of inherited retinal diseases in pediatric subjects. An approach that combines hardware and software is proposed: a dedicated medical equipment (pupillometer) is used with a purposely designed custom machine learning decision support system. Two distinct Support Vector Machines (SVMs), one for each eye, classify the features extracted from the pupillometric data. The designed CDSS has been used for diagnosis of Retinitis Pigmentosa in pediatric subjects.

Ключевые слова: Retinal Diseases, genetic heterogeneity, Clinical Decision Support System (CDSS), Retinitis Pigmentosa (RP), Support Vector Machines(SVMs)