Hôpital Necker-enfants Malades

This study aims to understand if two rare genetic eye diseases caused by the same gene mutation are actually different conditions. Researchers will analyze past medical records of 45 patients with either Wolfram syndrome or recessive optic atrophy. They will compare how vision ch…

This study aims to understand why people with Wolfram syndrome experience fecal incontinence. Researchers will review the medical records of 20 patients from a rare disease center to look for patterns and possible causes. The goal is to gather information that might help future p…