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Biomed Res Int. 2015;2015:954283. doi: 10.1155/2015/954283. Epub 2015 Oct 11.

Contribution of Electronic Medical Records to the Management of Rare Diseases.

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Ophthalmology Department, Amiens University Medical Center, University of Picardie Jules Verne, 80054 Amiens, France ; Ophthalmology Department, University Medical Center Necker Enfants Malades, APHP and CNRS Unit FR3636, Paris V University, 75015 Paris, France.
Department of Medical Information, Amiens University Medical Center, 80054 Amiens, France.
Cytogenetics and Reproduction Biology, Amiens University Medical Center, University of Picardie Jules Verne, 80054 Amiens, France ; EA Hervy, 80000 Amiens, France.



Electronic health record systems provide great opportunity to study most diseases. Objective of this study was to determine whether electronic medical records (EMR) in ophthalmology contribute to management of rare eye diseases, isolated or in syndromes. Study was designed to identify and collect patients' data with ophthalmology-specific EMR.


Ophthalmology-specific EMR software (Softalmo software Corilus) was used to acquire ophthalmological ocular consultation data from patients with five rare eye diseases. The rare eye diseases and data were selected and collected regarding expertise of eye center.


A total of 135,206 outpatient consultations were performed between 2011 and 2014 in our medical center specialized in rare eye diseases. The search software identified 29 congenital aniridia, 6 Axenfeld/Rieger syndrome, 11 BEPS, 3 Nanophthalmos, and 3 Rubinstein-Taybi syndrome.


EMR provides advantages for medical care. The use of ophthalmology-specific EMR is reliable and can contribute to a comprehensive ocular visual phenotype useful for clinical research.


Routinely EMR acquired with specific software dedicated to ophthalmology provides sufficient detail for rare diseases. These software-collected data appear useful for creating patient cohorts and recording ocular examination, avoiding the time-consuming analysis of paper records and investigation, in a University Hospital linked to a National Reference Rare Center Disease.

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