Riley-Day Syndrome (Familial Dysautonomia) with Neurotrophic Keratopathy
Contributor: Jesse Vislisel, MD
Photographer: Cindy Montague, CRA
Riley-Day syndrome (familial dysautonomia) is an inherited condition causing autonomic nervous system dysfunction that follows an autosomal recessive inheritance pattern. Ocular findings include decreased corneal sensation, decreased tear production, light-near dissociation, and poorly-reactive pupils. This patient with Riley-Day syndrome has neurotrophic keratopathy with complete conjunctivalization of the right eye and dense stromal scarring of the left eye.
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