10.46243/jst.2023.v8.i12.pp46-60 registered

Achromatopsia, Chloridaemia, etc.), and diseases of the inner retina, mainly retinal ganglion cell degeneration (e.g., congenital glaucoma, dominant optic atrophy, Leber hereditary optic neuropathy). Both conditions are characterized by extremely high genetic heterogeneity with over 200 causative genes identified to date, which represent a remarkable obstacle to a rapid and effective diagnosis, also considering that the same gene could cause different and heterogeneous clinical phenotypes.The clinical 1Assistant Professor,2UG Students, Department of Information Technology 1,2Malla Reddy Engineering College for Women, Maisammaguda, Dhulapally, Kompally, Secunderabad-500100, Telangana, India. DOI:https://doi.org/10.46243/jst.2023.v8.i12.pp46 -6030 K. Smita, G.Sanjana Reddy, J.Nikhila, N.Deekshitha: Ensemble Model-based Clinical Decision Support System for Inherited Retinal Diseases in Pediatric Age evaluation of IRDs is routinely based on a complex pattern of clinical tests, including invasive ones, that are not always appropriate for infants or young children. For example, electrophysiological testing, that represents the most informative clinical investigation for the diagnosis of inner and outer retinal diseases, often requires sedation of the children. Sedation affects the retinal response and requires a complex healthcare environment (e.g., operating room, paediatric, anaesthesiologist, dedicated instrumentation, etc.) with high costs for the health system. Therefore, the clinical diagnosis is not easy and requires specialized centres. Consequently, it takes a long time for the young patients and their relatives to receive a correct and complete screening.Photoreceptor cells (rods and cones) exhibit fast temporal kinetics and cause a brisk pupillary constriction in response to light, whereas the inner retinal melanopsin containing intrinsic photosensitive Retinal Ganglion Cells (ipRGCs) exhibits slower temporal kinetics and elicits a sustained pupillary constriction to light stimuli, persisting after light cessation [2]. They are classified in outer and inner retina diseases, and often cause blindness in childhood. The diagnosis for this type of illness is challenging, given the wide range of clinical and genetic causes (with over 200 causative genes). It is routinely based on a complex pattern of clinical tests, including invasive ones, not always appropriate for infants or young children. A different approach is thus needed, that exploits Chromatic Pupillometry, a technique increasingly used to assess outer and inner retina functions. This paper 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 paediatric subjects. Melillo, et al. [6] proposed a pilot study in order to evaluate clinical feasibility, reliability and utility of chromatic pupillometry. The study sample consists of sixty patients, affected by inherited ocular diseases. A pupillometric system, including definition of pupillometric protocols, have been set up. They present the comparison between the measurements obtained in one patient affected by Retinitis Pigmentosa and a healthy age-matched control in order to disclose differences in chromatic pupillometry parameters between case and control. Iadanza, et al. [7] proposed the Electronic Medical Record, named ORÁO and specifically developed to collect ophthalmologic and pupillometric data. The platform is a cloud- based application, with a RESTful and three-tier architecture. These features make it available via web for the ophthalmologists involved in the project and working in two different University centres. The platform has been designed by the whole team and developed by the Department of Information Engineering of the University of Florence. Iadanza, et al. [8] proposed ORÁO: RESTful cloudbased ophthalmologic medical record for chromatic pupillometry. The physicians involved in the project belong to two different University centres: the data they gather must be collected in an electronic medical record reachable via web. Therefore, a specified medical record has been designed. It has been realized as a .NET application with RESTful architecture. The user-interfaces have been built with the aim to reduce the risk of error and with particular attention to usability, according to standards. Melillo, et al. [9] proposed Early diagnosis of Inherited Retinal Diseases, such as Retinitis Pigmentosa (RP). It is challenging in paediatric patients, because their diagnosis mainly relies on relatively invasive tests. They conducted a pilot study to evaluate the usefulness of chromatic pupillometry in RP. They recruited 20 RP cases and 20 healthy subjects based Figure. 1. DP-2000 binocular pupillometer. The relative contributions of the three receptor types (rod, cone, and melanopsin pho