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 |
Year of first publication: | 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 |
ROR: | https://ror.org/023b0x485 |
DOI: | http://doi.org/10.25358/openscience-292 |
URN: | urn:nbn:de:hebis:77-publ-585093 |
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 URL: | http://dx.doi.org/10.1186/s13023-018-0829-z |
Publisher DOI: | 10.1186/s13023-018-0829-z |
Appears in collections: | JGU-Publikationen |