Retinal and optic nerve degeneration in α-mannosidosis

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,...

Source: Orphanet Journal of Rare Diseases - June 1, 2018 Category: Internal Medicine Authors: Juliane Matlach, Thea Zindel, Yasmina Amraoui, Laila Arash-Kaps, Julia B. Hennermann and Susanne Pitz Tags: Research Source Type: research