Retinal and optic nerve degeneration in α-mannosidosis

Retinal and optic nerve degeneration in α-mannosidosis

Abstract Background 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 previou...

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Bibliographic Details
Main Authors: Juliane Matlach, Thea Zindel, Yasmina Amraoui, Laila Arash-Kaps, Julia B. Hennermann, Susanne Pitz
Format: Article
Language:English
Published: BMC 2018-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
α-mannosidosis
Retinal degeneration
Optic nerve atrophy
Ocular findings
OCT
Online Access:http://link.springer.com/article/10.1186/s13023-018-0829-z

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http://link.springer.com/article/10.1186/s13023-018-0829-z

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