Retinal and optic nerve degeneration in α-mannosidosis
Retinal and optic nerve degeneration in α-mannosidosis
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Publisher
England: BioMed Central
Journal title
Language
English
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Publisher
England: BioMed Central
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Scope and Contents
Contents
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 ocul...
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Full title
Retinal and optic nerve degeneration in α-mannosidosis
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_c2e175977cb042f393d3fb39f8b51a3b
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c2e175977cb042f393d3fb39f8b51a3b
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-018-0829-z
