Case Report

Alagille Syndrome Associated with Myelinated Retinal Nerve Fibers
Bogomil Voykov^a, Emmanuella Guenova^b, Ekkehard Sturm^c, Christoph Deuter<sup>a

a</sup>Centre for Ophthalmology and
^bClinics for Dermatology, University Hospital Tübingen, and
^cUniversity Children’s Hospital Tübingen, Tübingen, Germany

Address of Corresponding Author

Ophthalmologica 2009;223:348-350 (DOI: 10.1159/000226259)

  Key Words

• Alagille syndrome
• Myelinated retinal nerve fibers
• Optic disc anomaly
• Posterior embryotoxon

  Abstract

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.

Copyright © 2009 S. Karger AG, Basel

  Author Contacts

Bogomil Voykov
Centre for Ophthalmology
Schleichstrasse 12–16
DE–72076 Tübingen (Germany)
Tel. +49 7071 29 83721, E-Mail bogomil.voykov@gmail.com

  Article Information

B.V. and E.G. contributed equally to this work.

Received: August 21, 2008
Accepted: December 11, 2008
Published online: July 1, 2009
Number of Print Pages : 3
Number of Figures : 2, Number of Tables : 0, Number of References : 10