Karger Publishers, Ophthalmologica, 5(223), p. 348-350, 2009
DOI: 10.1159/000226259
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<i>Purpose:</i> 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. <i>Methods:</i> 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. <i>Results:</i> We observed myelinated retinal nerve fibers in both eyes of a 5-year-old female patient with Alagille syndrome. <i>Conclusions:</i> 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.