Alagille syndrome associated with myelinated retinal nerve fibers

Publication

Alagille syndrome associated with myelinated retinal nerve fibers

Journal Paper/Review - Jul 1, 2009

Voykov Bogomil, Guenova Emmanuella, Sturm Ekkehard, Deuter Christoph

Citation

Voykov B, Guenova E, Sturm E, Deuter C. Alagille syndrome associated with myelinated retinal nerve fibers. Ophthalmologica 2009; 223:348-50.

Type

Journal Paper/Review (English)

Journal

Ophthalmologica 2009; 223

Publication Date

Jul 1, 2009

Issn Electronic

1423-0267

Pages

348-50

Brief description/objective

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.