This is a single-center prospective pilot study involving the ophthalmology and medical genetics departments of the Montpellier University Hospital, and the proteomics platform of the Montpellier University Hospital. 5 patients with PAX6 pathogenic variation will be included in order to determine the proteomic profile in a tear sample associated with different pathogenic variations of the PAX6 gene. Participation in the study for the patients consists of a single visit with an ophthalmological examination and a tear collection.
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Proteomic profile of tears associated with different pathogenic variations of the PAX6 gene.
Timeframe: Through study completion, an average of 18 months