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.