Alagille syndrome associated with myelinated retinal nerve fibers

PURPOSE: Alagille syndrome is frequently associated with optic disc anomalies. This is the first report of a patient with Alagille syndrome and myelinated retinal nerve fibers.

METHODS: A 5-year-old female patient was referred to the Centre for Ophthalmology before a liver transplantation. Ocular examinations including slit lamp examination and funduscopy as well as anterior segment and fundus images were performed.

RESULTS: We observed myelinated retinal nerve fibers in both eyes of a 5-year-old female patient with Alagille syndrome.

CONCLUSIONS: A broad spectrum of ocular anomalies is associated with Alagille syndrome. To our knowledge, this is the first reported case of myelinated retinal nerve fibers in a patient with Alagille syndrome.