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Updated: Jun 22, 2026

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Published on: August 11, 2016
Alagille syndrome associated with myelinated retinal nerve fibers
Bogomil Voykov1, Emmanuella Guenova, Ekkehard Sturm
1Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany. bogomil.voykov@gmail.com
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.
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