Please use this identifier to cite or link to this item: http://doi.org/10.25358/openscience-292
Authors: Matlach, Juliane
Zindel, Thea
Amraoui, Yasmina
Arash-Kaps, Laila
Hennermann, Julia B.
Pitz, Susanne
Title: Retinal and optic nerve degeneration in α-mannosidosis
Online publication date: 17-Oct-2018
Language: english
Abstract: α-mannosidosis is a rare, autosomal-recessive, lysosomal storage disease caused by a deficient activity of α-mannosidase. Typical symptoms include intellectual, motor and hearing impairment, facial coarsening, and musculoskeletal abnormalities. Ocular pathologies reported previously were mainly opacities of the cornea and lens, strabismus, and ocular motility disorders. However, retinal and optic nerve degeneration have been rarely described.
DDC: 620 Ingenieurwissenschaften und Maschinenbau
620 Engineering and allied operations
Institution: Johannes Gutenberg-Universität Mainz
Department: FB 04 Medizin
Place: Mainz
DOI: http://doi.org/10.25358/openscience-292
Version: Published version
Publication type: Zeitschriftenaufsatz
License: CC-BY
Information on rights of use: https://creativecommons.org/licenses/by/4.0/
Journal: Orphanet journal of rare diseases
13
Pages or article number: Art. 88
Publisher: BioMed Central
Publisher place: London
Issue date: 2018
ISSN: 1750-1172
Publisher's URL: http://dx.doi.org/10.1186/s13023-018-0829-z
Appears in collections:JGU-Publikationen

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